bluuebunny/crossref_metadata_2025 huggingface dataset:
Bone dysplasia, midface hypoplasia, and deafness: Three new patients and review of the literature
Authors: Kääriäinen Helena , Barrow Margaret , Hennekam Raoul
Published: June 2005

We report on 3 unrelated patients with a syndrome of sensorineural deafness (3/3), midface hypoplasia (3/3), disproportionate shortness with short limbs (3/3), cleft palate or bifid uvula (3/3), and lack of high myopia (3/3). This brings the number of reported patients with this condition to 11. Different names such as oto‐spondylo‐megaepiphyseal dysplasia (OSMED) or the Insley‐Astley syndrome have been used. We propose the name “syndrome of bone dysplasia, midface hypoplasia, and deafness” which lists the 3 main manifestations of the condition. © 1993 Wiley‐Liss, Inc.
Charles Darwin and other great men in correspondence with Carl Wilhelm von Naegeli
Authors: Naegeli Walter , Wiedemann Hans‐Rudolf
Published: June 2005

The great Swiss‐German Botanist Carl Wiljhelm von Naegeli (1817–1891) was a student of Lorenz Oken, A.P. de Candolle, and Matthias Jocob Schleiden and became a key figure in “genetic” (i.e., evolutionary‐developmental) biology in the mid‐late 19th century. He was an expert on the hawk‐weed, Hieracium and also made important contributions to microbiology. One of his many outstanding students was Carl Correns, one of the 3 rediscoverers of Mendel's work. Naegeli was an early proponent and defender of Darwin. The correspondence preserved in the Naegeli family contains many important letters between Naegeli and his contemporaries. Those from Mendel to Naegeli have passed out of the Naegeli family and were published by Correns earlier in the century. However, exceptionally notable items still in the archives of the Naegeli family include 4 surviving letters from Darwin, 2 letters from Virchow, and 10 from Justus von Liebig. In spite of a lack of appreciation of Mendel's work, we call attention to the importance of those surviving documents from an era in which very few of the greatest naturalists and founders of modern biology—including Goethe, Darwin, Galton, Agassiz, von Humboldt, von Baer—were without “blind spots.” © 1993 Wiley‐Liss, Inc.
New findings in short rib syndrome
Authors: Cideciyan Daniela , Rodriguez Maria M. , Haun Ronald L. , Abdenour George E. , Bruce Jocelyn H.
Published: June 2005

This white infant, born at 37 weeks of gestation, had a large cranium, bilateral an ophthalmia, a middline cleft lip and palate, hypoplastic chest with short ribs, slightly protuberant abdomen, short limbs, bilateral single transverse palmar creases, a single unbilical artery, normal female external genitalia, normal (46 XY) chromosomes, and radiographic findings suggesting a short‐rib (polydactyly) syndrome type IV (Beemer‐Langer). Autopsy showed pulmonary hypoplasia, bilateral renal cystic dysplasia, intrahepatic bile duct cysts with periportal fibrosis, pancreatic cysts, absent internal genitalia, an atrophic optic chiasm, absent optic nerves, a single left anterior cerebral artery, polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami. © 1993 Wiley‐Liss, Inc.
Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients
Authors: Méndez Juan Pablo , Ulloa‐Aguirre Alfredo , Kofman‐Alfaro Susana , Mutchinick Osvaldo , Fernández‐del‐Castillo Carlos , Reyes Edgardo , Pérez‐Palacios Gregorio
Published: June 2005

We describe clinical, cytogenetic, endocrine, and histopathological findings in 16 patients with mixed gonadal dysgenesis (MGD). All patients execpt 1 presented genital ambiguity and 10 of them had Ullrich‐Turner manifestations. The 45, X/46, XY karyotype was the most frequent with a predominance of 45, X cells in both peripheral lymphocytes and gonads. In all cases Müllerian and Wolffian remnants and/ or derivatives were found and in some patients both Wolffian‐and Müllerian‐derived structures were identified on the streak or testicular side. Postpubertal patients exhibited variable degrees of virilization and all of them had hypergonadotropism coexisting with low to normal baseline serm levels of testosterone; their testicular response to human chorionic gonadotropin (HCG) in terms of testosterone secretion was also variable, ranging from minimal to almost a normal response. All prepubertal patients but 1 had normal baseline levels of pituitary gonadotropins and testoserone and their gonadal response to the HCG challenges was highly variable. With the exception of 1 case, who had a 45X/46XY (P−) karyotype, no correlation between the cytogenetic data and degree of external genital ambiguity and the hormonal findings was observed. Additional information on the specific structural abnormalities involving the testis‐determining gene of the Y chromosome in patients with MGD is needed in order to further understand the mechanisms responsible for the wide variability characteristic of this disorder. © 1993 Wiley‐Liss, Inc.
Molecular and cytogenetic characterization of 9p– abnormalities
Authors: Teebi Ahmad S. , Gibson Lisa , McGrath James , Meyn M. S. , Breg W. Roy , Yang‐Feng Teresa L.
Published: June 2005

We report on 2 girls with terminal deletion of the short arm of chromosome 9 with concurrent duplication unrecognizable by routine chromosome studies. The phenotype of the patients was not specifically suggestive of the 9p– syndrome in the absence of trigonocephaly and long philtrum as cardinal manifestations. In addition to psychomotor retardation, their manifestations were mild and include upward slant of palpebral fissures and dolichomesophalangy which are characteristic of del(9p). Chromosome abnormalities were de novo in both cases.

The two rearranged chromosomes 9 exhibit similar G‐banding patterns and suggested the possible duplication of distal 7p. Fluorescence in situ hybridization (FISH) with a chromosome‐7 specific library probe indeed identified that one derivatie chromosome 9 was the result of a translocation between chromosomes 7 and 9 [der(9)t(7;9)(p15.3;p24)] but failed to detect a signal on the other derivative 9. In the second case, the concurrent abnormality was an inverted duplication of proximal 9p and deletion of distal 9p [invdup(9)(p13→p22::p22→qter)] confirmed by FISH using a chromosome 9 specific librarayprobe. FISH clearly identified the origin of these 2 abnormal choromosomes 9 and provided crucial information for clinical evaluation We emphasize the importance of utilizing updated cytogenetic and molecular techniques in the precise delineation of subtle or complex abnormalities where there are no useful phenotypic clues. © 1993 Wiley‐Liss, Inc.
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe
Authors: Kenworthy Lauren , Park Taesung , Charnas Lawrence R.
Published: June 2005

Background: The oculocerebrorenal syndrome of Lowe (OCRL) is an X‐linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Significant behavioral difficulties have been reported, but no formal study of intelligence or behavior has been described. Methods: We surveyed IQ and behavior using archival data and standardized instruments in 47 affected males. Results: Mean IQ was in the moderate mental retardation range (40 ≤ IQ ≤ 54), with 25% of tested individuals in normal range (IQ ≥ 70). The OCRL population was comparable to a normative population with mental retardation in language, communication, and socialization skills, but lower in independent living skills than means of either populations of individuals with mental retardation or visual impairment. Maladaptive behaviors, particularly stubbornness, temper tantrums, and stereotypic behaviors, were very frequent (>80%). Conclusions: The diagnosis of OCRL is compatible with normal intelligence. Maladaptive behaviors significantly interfere with adaptive functions. These behaviors appear to define a characteristic behavioral phenotype in OCRL. © 1993 Wiley‐Liss, Inc.
Isochromosome 18p in a mother and her child
Authors: Abeliovich Dvorah , Dagan Judith , Levy Alina , Steinberg Avraham , Zlotogora Joel
Published: June 2005

We present a familial case of isochromosome 18p [i(18p)] as a supernumerary chromosome. The mother, who is a mosaic for i(18p) with partial tetrasomy 18p syndrome, transmitted the isochromosome to her only child. The child has the full syndrome of tetrasomy 18p. This is the first case of mosaicism i(18p) in an adult patient with clinical manifestations. © 1993 Wiley‐Liss, Inc.
Pseudoaminopterin syndrome
Authors: Verloes Alain , Bricteux Guy , Koulischer Lucien
Published: June 2005

We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high‐arched palate, micrognathia, thick, abnormal auricles, ASD, minor hand anomalies, growth and mental ratardation. Three convincing cases of “Aminopterin Syndrome Sine Aminopterin” have been reported (the fourth case possibly having the Juberg–Hayward syndrome). Variability and heterogeneity of cases with apparent aminopterin embryopathy are discussed. © 1993 Wiley‐Liss, Inc.
Hirsutism–skeletal dysplasia–mental retardation syndrome with abnormal face and a uric acid metabolism disorder
Authors: Wiedemann Hans‐Rudolf , Oldigs Hans‐Dieter , Oppermann Hans‐Conrad , Oster Oskar
Published: June 2005

We report on a German boy, born to nonconsanguineous parents, with an apparently new combination of multiple congenital anomalies including extraordinary hirsutism, marked brachycephaly, abnormal position of thumbs, pedes excavati with claw‐toes, an abnormal face, and mental retardation. Additionally the boy manifests a disorder of uric acid metabolism. This sporadic case may represent a new syndrome due to a fresh autosomal or X‐linked mutation, or chance‐isolated case due to segregation of an autosomal recessive gene. © 1993 Wiley‐Liss, Inc.
Oral zinc therapy in the treatment of α‐mannosidosis
Authors: Wong Lawrence T. K. , Vallance Hilary , Savage Angela , Davidson A. G. F. , Applegarth Derek
Published: June 2005

Human α‐mannosidosis is a lysosomal storage disorder characterized by mental retardation, dysostosis multiplex, and hepatosplenomegaly. Deficiency of the enzyme leads to accumulation of mannose‐rich glycoconjugates in tissues. Zinc sulphate has been shown to stimulate α‐mannosidase activity in vitro. Oral zinc therapy was attempted on a 4‐year‐old boy with α‐mannosidosis for 3 years. After almost 10 years of follow‐up on and off zinc therapy, we must conclude that oral zinc does not substantially affect the clinical course of α‐mannosidosis. © 1993 Wiley‐Liss, Inc.
Causal study of isolated ulnar‐fibular deficiency in Hungary, 1975–1984
Authors: Czeizel Andrew E. , Vitéz Márta , Kodaj Imre , Lenz Widukind
Published: June 2005

A population‐based and validated data set of 114 cases with isolated ulnar‐fibular deficiency was evaluated in Hungary, 1975–1984. Ulnar‐fibular type had the third most common birth prevalence (0.07 per 1000) among isolated congenital limb deficiency types. This type is relatively rarely associated with nonlimb defects, a single limb is affected in two‐thirds of cases, nearly all other cases had femur‐fibula‐ulna (FFU) dysostosis. Upper and lower limbs, right and left sides, are equally affected, however, there is an obvious male excess (71%). Case‐control analysis indicated a lower birth weight due to intrauterine growth retardation, higher birth order, lower socioeconomic status of parents, and a more frequent reported subfertility. The family study identified one familial cluster (one siboccurrence) among 331 first‐degree relatives. © 1993 Wiley‐Liss, Inc.
Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy
Authors: Jalal S. M. , Lindor N. M. , Michels V. V. , Buckley D. D. , Hoppe D. A. , Sarkar G. , Dewald G. W.
Published: June 2005

Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by a trinucleotide (AGC) amplification at 19q13.3. The degree of trinucleotide amplification may increase in successive generations and generally correlates with severity of the disorder. Because amplification of a trinucleotide repeat is also associated with the observation of a fra(X)(q27.3) in the fragile X syndrome, we investigated whether chromosome fragility at 19q13.3 might be inducible in patients with DM. Using 3 different culture stress systems (medium 199, RPMI 1640 with excess TdR, and RPMI 1640 with FudR) and high resolution chromosome analyses, we studied 6 individuals with DM and 5 unaffected relatives representing two unrelated families. Molecular studies were done on two of the most affected patients and showed AGC repeat sequences of 970 and 1,260 at 19q13.3. The normal range of AGC repeat is 5 to 30. We found no indication of fragility at 19q13.3 in any of these individuals. © 1993 Wiley‐Liss, Inc.
Newly recognized autosomal dominant disorder with craniosynostosis
Authors: Warman Matthew L. , Mulliken John B. , Hayward Peter G. , Müller Ulrich
Published: June 2005

We report a family with a newly recognized form of autosomal dominant craniosynostosis. The disorder has high penetrance and variable expression with respect to sutural involvement and cranial abnormalities, ranging from fronto‐orbital recession to clover‐leaf skull deformity. Associated problems included headache, poor vision, and seizures; intelligence, however, is normal. Assignment of a well‐described syndromic designation, e.g., Crouzon, Pfeiffer, Saethre‐Chotzen, or Jackson‐Weiss, is precluded based upon the absence of characteristic changes, i.e., midfacial hypoplasia, orbital hypertelorism, blepharoptosis, hand anomalies, or foot anomalies. The large size of this family and high penetrance of the disorder suggests that this may be an excellent candidate for positional cloning of a locus important in craniofacial development. © 1993 Wiley‐Liss, Inc.
Amniotic band sequence and limb defects: Data from a population‐based study
Authors: Froster Ursula G. , Baird Patricia A.
Published: June 2005

Cases with amniotic bands were analysed separately as part of an ongoing study of limb defects occurring among 1,213,913 liveborn infants in British Columbia during the years 1952 to 1984. A total of 24 cases with this specific condition was identified among 659 cases with limb defects. The calculated incidence for amniotic band sequence with significant limb involvement was 0.19 in 10,000 livebirths. This is a minimal incidence, as cases without defects of the limbs, but with constriction rings were not identified with this approach. Familial cases and cases with additional anomalies were found. © 1993 Wiley‐Liss, Inc.
Mosaic tetrasomy 8p
Authors: Newton Dale , Hammond Lyn , Wiley John , Kushnick Theodore
Published: June 2005

We report on a patient with mosaic tetrasomy 8p [46,XX/47,XX+i(8p)]. The patient has 2 fused vertebrae, abnormal ribs, congenital heart defects, agenesis of corpus callosum, hypotonia, and delayed development. The patient's developmental delays are most marked in receptive and expressive language skills, with more moderate delays on cognitive, sensorimotor, and motor skill testing. These findings are similar to those of the 3 previously reported patients with mosaic i(8p). © 1993 Wiley‐Liss, Inc.
Two consecutive hydrolethalus syndrome‐affected pregnancies in a nonconsanguinous black couple: Discussion of problems in prenatal differential diagnosis of midline malformation syndromes
Authors: Pryde Peter G. , Qureshi Faisal , Hallak Mordechai , Kupsky William , Johnson Mark P. , Evans Mark I.
Published: June 2005

Hydrolethalus syndrome is a rare autosomal recessive (AR) disorder characterized by polyhydramnios, CNS abnormalities, cleft lip/palate, micrognathia, and polydactyly. Its molecular basis is unknown and prenatal diagnosis is challenging due to phenotypic overlap with several other midline malformation syndromes. A 34‐year‐old G3P2, nonconsanguinous, married, Africa‐American woman was referred at 19 weeks of gestation after ultrasound finding of “multiple congenital anomalies.” A previous pregnancy had been terminated following ultrasound findings of polyhydramnios, cleft lip/palate, polydactyly, severe hydrocephalus, and a Dandy‐Walker malformation (DWM). Level II ultrasound evaluation of the current pregnancy demonstrated all of the anomalies which had been present in her previous pregnancy. Karyotype of amniocytes was 46,XX. Autopsy following pregnancy termination confirmed ultrasound findings. The pedigree, sonographic, and autopsy findings in this case were most consistent with hydrolethalus syndrom, although other AR multiple midline malformation syndromes were considered. Our case was detected by 19 weeks. Confident differential diagnosis is difficult for the geneticist and even more so for the sonologist given the technical limitations of ultrasound. It is uncertain whether these mendelian midline malformation syndromes represent slightly different phenotypic expressions of a common genetic defect or are manifestations of allelic and or locus heterogeneity. We suggest that for prenatal diagnostic purposes, in the absence of knowledge of the molecular basis of these disorders, the fine distinctions are not crucial as long as their mendelian inheritance is recognized and presence or absence of manifestations which make them severe are ascertained. © 1993 Wiley‐Liss, Inc.
Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis
Authors: Wang Hungshu , McLaughlin Margaret , Thompson Calvin , Hunter Alasdair G. W.
Published: June 2005

A balanced complex chromosome rearrangement (BCCR) involving 3 chromosome with 4 breakpoints, was studied because her fetus was discovered to have an unbalanced reciprocal translocation (7q;10q). Analysis of high resolution bands and the application of fluorescence in situ hybridization has identified the BCCR as der (7)t(7;10)(q21.13;q23.33)ins(21;7)(q21.3;q11.22q21.13), der (10)t(7;10)(q21.13;q23.33), der (21)ins(21;7)(q21.3;q11.22q21.13). Alternate segregation of the BCCR appears to be favoured and has resulted in two pregnancies with an unbalanced chromosome constitution. © 1993 Wiley‐Liss, Inc.
Two distinct mutations in a single dystrophin gene: Identification of an altered splice‐site as the primary becker muscular dystrophy mutation
Authors: Wilton S. D. , Johnsen R. D. , Pedretti J. R. , Laing N. G.
Published: June 2005

A single base change in the 5′ splice‐site of intron 19 has been identified as the cause of the Becker muscular dystrophy in a family which had previously been deduced to carry both a major deletion and another, at that stage unidentified, mutation in the same dystrophin gene [Laing et al., 1992]. RNA from a muscle biopsy of one of the Becker muscular dystrophy patients in the family was analysed using the reverse transcriptase‐polymerase chain reaction (RT‐PCR) to study the mature gene transcript. Exon 19 was deleted from the dystrophin mRNA but present at the genomic level. The loss of exon 19 in the mature mRNA was found to be, associated with an A to C mutation in the 5′ splice site of intron 19. Deletion of exon 19 should alter the reading frame of the mRNA and be associated with a severe from of muscular dystrophy; however, low levels of normal‐size dystrophin message and dystrophin were present in this patient. The distance between the splice‐site mutation and the secondary deletion in the dystrophin gene is such that it would seem unlikely that the initial base change could act as permutation for the deletion. Specific primers to detect the splice‐site mutation have been designed and used to genotype all relatives. © 1993 Wiley‐Liss, Inc.
Fingernail angle in girls with Ullrich‐Turner syndrome
Authors: Kaplowitz Paul B. , Chernausek Steven D. , Horn Jo Ann
Published: June 2005

Increased angle of insertion of the fingernails is known to be a common finding in girls with Ullrich‐Turner syndrome (UTS), but there are few data on the frequency of this finding and no quantitative data that define what is a normal fingernail angle. To assess the usefulness of this measurement in evaluating patients with suspected UTS, we obtained tracings of 6 different fingernails to determine the mean fingernail angle (MFA) in 40 patients with UTS and compared the results with control girls and adults. As a group, the 24 girls with 45,X had an average MFA of 8.9°, compared to 6.8° for the 16 mosaics and variants, 3.0° for normal children and 1.3° for normal adults. Although there was overlap between the groups, 79% of 45,X girls and 56% of variants had an MFA of >6°, whereas only 8% of the combined control individuals had an MFA of >6°. Reproducibility of MFA determinations based on tracings obtained at consecutive visits was excellent (r = 0.92). There was no clear correlation between the MFA and the severity of the UTS phenotype. Determination of MFA is a simple, objective measurement which, when combined with other clinical findings, may aid the clinician in making a diagnosis of UTS. © 1993 Wiley‐Liss, Inc.
Cytogenetic findings of a child with transcobalamin II deficiency
Authors: Vance Gail H. , Moncino Mark , Heerema Nyla A.
Published: June 2005

Transcobalamin II deficiency is a rare, probably autosomal recessive, inborn error of protein metabolism [Hakami et al., 1971]. Several authors have described the morphological characteristics of bone marrow aspirates from patients with this disorder; no reports have detailed the cytogenetic findings [Hitzig et al., 1974; Hakami et al., 1971; Niebrugge et al., 1982]. We report the cytogenetic findings of the bone marrow aspirates from an infant with transcobalamin II deficiency and identity fragile site expression in the hematopoietic cells in this patient. © 1993 Wiley‐Liss, Inc.
Brachydactylous dwarfs of Mseleni
Authors: Viljoen Denis , Fredlund Victor , Ramesar Raj , Beighton Peter
Published: June 2005

Eight individuals with an unusual dwarfing skeletal dysplasia have been investigated in a remote rural area in Northern Zululand, South Africa. These dwarfed individuals are members of a community numbering some 10,000 persons; approximately 20% have a degenerative arthropathy affecting mainly the major joints of the hips, knees, ankles, and spine. The pathogenesis of the latter disorder, which is known as Mseleni joint disease (MJD), remains obscure. The dwarfed persons have some radiological findings in keeping with MJD, but they are, in addition, of short stature and have marked brachydactyly of their fingers and toes. The pathogenetic relationship between these conditions, if any, is unclear but may have important implications for their causal elucidation. © 1993 Wiley‐Liss, Inc.
Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies
Authors: MacDonald Madeleine R. , Schaefer G. Bradley , Olney Ann Haskins , Tamayo Marta , Frías Jaime L.
Published: June 2005

We report the brain magnetic resonance imaging findings in 4 patients with the Opitz BBB/G syndrome. The scans were assessed by subjective interpretation and computerized image analysis. Findings noted in 3 of the 4 patients include hypoplasia or agenesis of the corpus callosum (3 patients), cortical atrophy and ventriculomegaly (3 patients), macro cisterna magna (3 patients), and a wide cavum septum pellucidum (1 patient). One patient had a normal scan. The demonstration of a wide cavum septum pellucidum extends the spectrum of midline brain anomalies (ventral induction defects) reported in this condition. This study along with other recent reports suggests that midline brain anomalies may be frequent findings in Opitz syndrome. © 1993 Wiley‐Liss, Inc.
True telomeric translocation in a baby with the Prader‐Willi phenotype
Authors: Reeve Ann , Norman Andrew , Sinclair Paul , Whittington‐Smith Ruth , Hamey Yvonne , Donnai Dian , Read Andrew
Published: June 2005

We report on a baby with a nonreciprocal de novo unbalanced translocation between chromosomes 12 and 15. Her karyotype was 45,XX,−12, –15, +der(12)t(12;15) (pter→qter::q13→qter). The paternal origin of the 15q11‐13 region was shown by DNA marker studies and, consistent with this, the baby had the Prader‐Willi (PWS) phenotype. The breakpoint on 12q was distal to D12S11 (λMS43) which maps to 12q24.3‐qter. Fluorescent in situ hybridization using the oligonucleotides (TTAGGG)7 and (AATCCC)7 showed that the 12q telomere was still present within the translocated chromosome. Thus, the translocation was within or onto the end of the telomere of 12q. This unusual translocation is further evidence of an unexplained instability of the 15q11‐13 region. © 1993 Wiley‐Liss, Inc.
Alpers progressive infantile neuronal poliodystrophy: An acute neonatal form with findings of the fetal akinesia syndrome
Authors: Frydman Moshe , Jager‐Roman Elke , de Vries Liat , Stoltenburg‐Didinger Gisela , Nussinovitch Moshe , Sirota Lea
Published: June 2005

We report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest deformity were found. The second family presented with an early infantile form. All the effected offspring had micrognathia and one had findings of fetal akinesia, comparable to those seen in the other family. Microcephaly was mild at birth and progressed with age. Refractory neonatal convulsions, swallowing difficulties, and pneumonia complicated the clinical course of patients in both families, and all the patients died before age 20 months. Results of comprehensive biochemical and metabolic studies in both families were normal and the diagnosis was supported by demonstration of extensive progressive brain atrophy on CT and typical histological findings. Patients without a detectable defect in energy metabolism and normal liver histology comprise a distinct subset of Alpers syndrome. Until the metabolic defect(s) is defined, we suggest naming the acute neonatal form of this subset of Alpers syndrome “type 1.”. © 1993 Wiley‐Liss, Inc.
Lethal multiple pterygium syndrome: Report of a case with neurological anomalies
Authors: Spearritt D. J. , Tannenberg A. E. G. , Payton D. J.
Published: June 2005

We report on a 22‐week female fetus with multiple pterygia, congenital joint contractures, muscle hypoplasia, cystic hygroma, hydrops, pulmonary and cardiac hypoplasia, facial anomalies, and growth retardation. Examination also documented microcephaly, brain immaturity, and severe cerebellar and pontine hypoplasia with absence of the pyramidal tracts. The spinal cord showed a marked decrease in size of all white matter tracts. The muscles were markedly hypoplastic. The relation of the neurological findings to the development of the syndrome is discussed. © 1993 Wiley‐Liss, Inc.
Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries
Authors: van Essen Anthonie J. , Schoots Coen J. F. , van Lingen Richard A. , Mourits Marian J. E. , Tuerlings Joep H. A. M. , Leegte Bieke
Published: June 2005

We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double Outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad. © 1993 Wiley‐Liss, Inc.
Mosaic tetrasomy 8p: Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels
Authors: Fisher Andrew M. , Barber John C. K. , Crolla John A. , James Rowena S. , Lestas Andres N. , Jennings Ian , Dennis Nicholas R.
Published: June 2005

We report the case of 5‐year‐old girl with severe developmental disabilities, skeletal anomalies, hypotonia, rectal atresia, malrotation of the intestine, horseshoe kidney, vesicoureteric reflux, and minor facial anomalies. Conventional cytogenetic techniques suggested that she had a mosaic 46,XX/47,XX,+i(8p) constitution, and the identity of the isochromosome was confirmed by in situ hybridization and chromosome painting. Polymorphic DNA markers are consistent with the i(8p) having arisen as the result of a segregation error and centromere misdivision at the second maternal meiotic division. The i(8p) ws seen in 17/25 (68%) lymphocytes at the age of one month but had declined to 31/100 (31%) cells by the age of 5 years. At this time the i(8p) was seen in 30/68 (44%) cultured skin fibrobasts. The proposita had an approximately twofold increase in red cell glutathione reductase activity but a normal level of tissueplasminogen activator. These enzyme results are consistent with the known localisation of the glutathione reductase gene on the short arm of chromosome 8 but suggest that the tissue‐plasminogen activator gene may map outside this region. © 1993 Wiley‐Liss, Inc.
Long‐term follow‐up of two sibs with Larsen syndrome possibly due to parental germ‐line mosaicism
Authors: Petrella Rena , Rabinowitz Jack G. , Steinmann Beat , Hirschhorn Kurt
Published: June 2005

Larsen syndrome is a heterogeneous (autosomal dominant or recessive) disorder of characteristic facial changes, multiple joint dislocations, and bone deformities. Few data on the adult presentation of the recessive form of this disorder have been reported; thus, we set out to describe two sibs thought to be affected with autosomal recessive Larsen syndrome who were evaluated as infants and later as adults. Aside from secondary joint changes and the presence of cataracts, changes described in children with autosomal recessive Larsen syndrome were noted. Three years after evaluation, the sister gave birth to a daughter with Larsen syndrome. This occurrence raises the possibility of germ‐line mosaicism as the mode of inheritance in this family. Thus, germ‐line mosaicism must be considered in the genetic counseling of families with Larsen syndrome in which neither parent appears affected. These patients also illustrate that despite the severe skeletal and joint deformities, the prognosis can be good with careful orthopedic management. © 1993 Wiley‐Liss, Inc.
Galloway‐Mowat syndrome of abnormal gyral patterns and glomerulopathy
Authors: Cooperstone Brenda G. , Friedman Aaron , Kaplan Bernard S.
Published: June 2005

The combination of microcephaly, gyral abnormalities, developmental delay, and a glomerulopathy constitutes a recognizable syndrome. The inheritance is autosomal recessive. Additional abnormalities may include seizures, minor facial anomalies, and hiatal hernia. Onset of proteinuria often occurs in the first 3 months of life, but always before age 3 years. A uniform pattern of renal histologic changes has not been found. There is no effective treatment for the neurologic or renal manifestations of this condition. The prognosis is extremely poor; every patient but one has died before age 5½ years. Antenatal diagnosis may be possible. © 1993 Wiley‐Liss, Inc.
Possible association between the hernia of Morgagni and trisomy 21
Authors: Honoré Louis H. , Torfs Claudine P. , Curry Cynthia J. R.
Published: June 2005

Of the 5 liveborn infants with the hernia of Morgagni recorded in the California Birth Defects Monitoring Program, 3 had trisomy 21. This significant association (P < 10−6) between the hernia of Morgagni and trisomy 21 may reflect defective dorsoventral migration of rhabdomyoblasts from the paraxial myotomes, caused by increased cellular adhesiveness in trisomy 21. © 1993 Wiley‐Liss, Inc.
Gerodermia osteodysplastica: Report on two patients and surgical correction of facial deformity
Authors: Lustmann Joshua , Nahlieli Oded , Harary Doron , Casap Nardi , Neder Amos , Zlotogora Joël
Published: June 2005

We present four individuals with Gerodermia Osteodysplastica in a Jewish family from Morocco confirming the autosomal recessive inheritance of the disorder. Three previously unreported findings are described: (a) enlarged funnel‐shaped mandibular lingula; (b) extension of the mandibular premolar and molar roots below the inferior dental canal, and of the second molars into the lower border of mandibular cortical bone; and (c) hypercementosis of the maxillary incisors and mandibular molars surrounded by a radiolucent halo in several teeth. The facial deformity resulting from maxillary hypoplasia and mandibular prognathism was corrected by orthognathic surgery: Le Fort I maxillary osteotomy and vertical mandibular osteotomy. © 1993 Wiley‐Liss, Inc.
Newly recognized autosomal recessive MCA/MR/ overgrowth syndrome
Authors: Richieri‐Costa A. , Guion‐Almeida M. L. , Cohen M. M.
Published: June 2005

We report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome. © 1993 Wiley‐Liss, Inc.
Cardio‐facio‐cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7
Authors: Lopez‐Rangel E. , Hrynchak M. , Friedman J. M.
Published: June 2005

We describe a 6½‐year‐old girl with the cardio‐facio‐cutaneous (CFC) syndrome. She presents with most of the characteristics of this condition: typical facial changes, congenital heart defect, slow growth, ectodermal dysplasia, and developmental delay. Chromosome analysis disclosed a 46,XX,inv(7)(q21.2q 31.2) mat karyotype. © 1993 Wiley‐Liss, Inc.
GAPO syndrome in three relatives in a Turkish kindred
Authors: Şayli Bekir Sitki , Gül Davut
Published: June 2005

GAPO syndrome in 2 sibs (brother and sister) and in a first cousin presented slight variations in the clinical picture. These include presence of some body hair, white eyelashes, deep furrows on sternum and back, disproportional body build, and minor skeletal abnormalities. It has been suggested that the athletic appearance of affected individuals is most likely due to the excessive amount of connective tissue. © 1993 Wiley‐Liss, Inc.
Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann‐de Lange syndrome
Authors: Shaffer Lisa G. , Overhauser Joan , Jackson Laird G. , Ledbetter David H.
Published: June 2005

Uniparental disomy is responsible for a proportion of cases in Prader‐Willi, Angelman, and Wiedemann‐Beckwith syndromes. In these syndromes, the chromosomes involved are thought to contain one or more imprinted genes. When two copies of the imprinted (inactivated) gene are inherited from a single parent through uniparental disomy or the active gene is deleted, the phenotype of the syndrome results. Our goal is to indentify additional syndromes caused by uniparental distomy. Our approach is to select syndromes that appear to have more than one mode of inheritance and are occasionally associated with a cytogenetic abnormality. Given this criterion, we have chosen Brachmann‐de Lange Syndrome (BDLS) to investigate since the phenotype is similar to that found in patients with dup(3q).

We have studied 16 probands with BDLS and their parents using a multiplex of four PCR‐based polymorphic loci on chromosome 3. None of the probands studied had uniparental disomy for chromosome 3 and all demonstrated normal biparental inheritance for at least one locus. Given these results, uniparental disomy of chromosome 3 does not appear to be a major contributor to the syndrome. Additionally, both maternally and paternally derived chromosome abnormalities have resulted in the dup(3q) phenotype and dominant inheritance of BDLS from both mildly affected mothers and father have been reported which suggests that imprinting is not involved in these syndromes. © 1993 Wiley‐Liss, Inc.
Prenatal Detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha‐fetoprotein
Authors: Dolan Cynthia R. , Smith Lynne T. , Sybert Virginia P.
Published: June 2005

We report on the prenatal diagnosis of epidermolysis bullosa letalis with pyloric atresia in a pregnancy not known to be at risk for this condition. Elevated maternal serum alphafetoprotien levels led to ultrasonography which demonstrated gastric dilatation, consistent with pyloric atresia, and echogenic particles in the amniotic fluid, the “snowflake sign,” previously described in two pregnancies of fetuses with disorders of skin sloughing. Amniotic fluid alpha‐fetoprotien was markedly elevated and the acetylcholinesterase was positive. The diagnosis of epidermolysis bullosa letalis with pyloric atresia was confirmed after delivery by electron microscopy of fetal skin which showed typical changes of hypoplastic absent hemidesmosomes and separation along the dermal‐epidermal junction. None of these abnormal prenatal findings are consistently present in pregnancies with epidermolysis bullosa with pyloric atresia. Thus, although useful when abnormal, when the test results are normal, the need for confirmatory fetoscopy and fetal skin biopsy remains. © 1993 Wiley‐Liss, Inc.
Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome
Authors: Ladda Roger L. , Zonana Jonathan , Ramer Jeanette C. , Mascari Maria J. , Rogan Peter K.
Published: June 2005

Brother were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X‐linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12‐q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome. © 1993 Wiley‐Liss, Inc.
Sagittal craniosynostosis, Dandy‐Walker malformation, and hydrocephalus: A unique multiple malformation syndrome
Authors: Braddock Stephen R. , Jones Kenneth L. , Superneau Duane W. , Jones Marilyn C.
Published: June 2005

The Dandy‐Walker malformation and craniosynostosis have each been described as isolated occurrences and as components of multiple malformation syndromes. The purpose of this report is to delineate the characteristics of a multiple malformation syndrome of Dandy‐Walker malformation and sagittal craniosynostosis. The inheritance pattern appears to be autosomal dominant. © 1993 Wiley‐Liss, Inc.
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder?
Authors: Donnai Dian , Barrow Margaret
Published: June 2005

We describe unrelated male and female patients with an identical syndrome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. One child had an iris coloboma. After the birth of the first affected child in each family subsequent pregnancies were monitored with ultrasound scan and a further affected fetus was identified in both families. We conclude that this constellation of anomalies represents a distinct, previously unreported syndrome with likely autosomal recessive inheritance. © 1993 Wiley‐Liss, Inc.
Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes
Authors: Müller F. ‐M. , Barth G. M. , Menger H. , Spranger J.
Published: June 2005

We report on sibs of both sexes with a multiple malformation syndrome of cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers. The older boy died in a tonic extension spasm at age 4 months. When discharged, the younger girl was 3.5 months old. This appears to be an autosomal recessive syndrome which to our knowledge has not been described before. © 1993 Wiley‐Liss, Inc.
Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: A new MCA/MR syndrome of unknown cause
Authors: Richieri‐Costa A. , Guion‐Almeida M. L.
Published: June 2005

We report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent‐pattern cerebro‐oculo‐nasal syndrome. © 1993 Wiley‐Liss, Inc.
Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients
Authors: Richieri‐Costa A. , Pereira Sonia Cristina Silveira
Published: June 2005

We report on 2 unrelated Brazilian boys with the syndrome of autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet. This is the first report of male patients. © 1993 Wiley‐Liss, Inc.
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X‐linked phenotype distinct from Goltz syndrome
Authors: Happle R. , Daniëls O. , Koopman R. J. J.
Published: June 2005

Bilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in a newborn girl who died at age 9 months from cardiomyopathy resulting in ventricular fibrillation. Autopsy showed an atrial septum defect, persistent gross trabeculation of the left ventricle, and an arteria lusoria. This case represents a further example of a new entity for which we propose the term MIDAS syndrome. The acronym stands for microphthalmia, dermal aplasia, and sclerocornea. Our patient is the second with this syndrome to have a major congenital heart defect. Cytogenetic studies reported in previous cases indicate that the underlying gene defect can be assigned to Xp22.3. This new X‐linked malelethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X‐chromosome. © 1993 Wiley‐Liss, Inc.
Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi–Shaltout syndrome): Clinical and autopsy findings
Authors: Froster Ursula G. , Rehder Helga , Höhn Wilfried , Oberheuser Friedhelm
Published: June 2005

Teebi and Shaltout [1989: Am J Med Genet 33: 58–60] described a new syndrome of craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage in children born to a consanguineous couple. We report on a second family with the same pattern of anomalies occurring in a liveborn female and 3 spontaneously aborted fetuses, and include autopsy findings. As additional findings 2 of our cases had unilateral microphthalmia and kidney anomalies. Our observation confirms that this pattern of anomalies is a distinct syndrome with autosomal recessive inheritance; we suggest the synonym Teebi–Shaltout syndrome. © 1993 Wiley‐Liss, Inc.
Extension of the cleft lip phenotype: The subepithelial cleft
Authors: Martin Rick A. , Jones Kenneth L. , Benirschke Kurt
Published: June 2005

We present a previously undescribed occult malformation of the upper lip manifest by discontinuity of the orbicularis oris muscle. The relationship of this defect to our current concept of abnormal maxillary process development is discussed along with a proposal to extend the cleft lip phenotype. © 1993 Wiley‐Liss, Inc.
Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type
Authors: Langer Leonard O. , Schaefer G. Bradley , Wadsworth Deborah T.
Published: June 2005

We present a 7½‐year‐old girl with achondroplasia and pseudoachondroplasia. Her mother has achondroplasia and her father has pseudoachondroplasia. Radiographic manifestations of these two conditions from infancy to age 6 years are outlined. The findings in this patient are compared with those of achondroplastic patients and pseudoachondroplastic patients of similar ages. Our review of radiographs of many pseudoachondroplastic patients and subsequently of those of patients with multiple epiphyseal dysplasia (MED), Fairbank type, reinforced our opinion that pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type, are closely related conditions. MED, Fairbank type, may be the mildest form of pseudoachondroplasia. Recently published electron microscopic findings also suggest this. © 1993 Wiley‐Liss, Inc.
Mesomelic limb shortness: A previously unreported autosomal recessive type
Authors: Reardon W. , Hall C. M. , Slaney S. , Huson S. M. , Connell J. , Al‐Hilaly N. , Fixsen J. , Baraitser M. , Winter R. M.
Published: June 2005

We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities. © 1993 Wiley‐Liss, Inc.
Prenatal detection of de novo paracentric inversion 46, XX inv (14) (q22q32.1) in a normal child: Report and review of the literature
Authors: Hales Holly An , Peterson C. Matthew , Carey John , Hecht Barbara Kaiser‐McCaw , Hecht Frederick
Published: June 2005

We present prenatal diagnosis and follow‐up examination of an individual with a de novo paracentric inversion of the long are of chromosome 14. A literature search documented 19 other cases of paracentric inversion of 14q. The outcome of each of these cases is specified together with that of this current case. Four of the 20 cases, all XY, manifested significant abnormalities with mental retardation and microcephaly present in 3 of the 4 cases; 15% (2/13) of familial cases had abnormalities and 40% (2/5) of de novo cases had abnormalities. © 1993 Wiley‐Liss, Inc.
Fetal alcohol syndrome in twins of alcoholic mothers: Concordance of diagnosis and IQ
Authors: Streissguth Ann P. , Dehaene Philippe
Published: June 2005

The effects of teratogens can be modified by genetic differences in fetal susceptibility and resistance. Twins of alcoholic mothers provide a unique opportunity to study this phenomenon with respect to alcohol teratogenesis. Sixteen pairs of twins, 5 MZ and 11 DZ, all heavily exposed to alcohol prenatally, were evaluated. They represented all available twins of alcohol‐abusing mothers who were on the patient rolls of the authors. The rate of concordance for diagnosis was 5/5 for MZ and 7/11 for DZ twins. In two DZ pairs, one twin had fetal alcohol syndrome (FAS), while the other had fetal alcohol effects (FAE). In 2 other DZ pairs, one twin had no diagnosis while one had FAE. IQ scores were most similar within pairs of MZ twins and least similar within pairs of DZ twins discordant for diagnosis. Despite equivalent alcohol exposure within twin pairs, alcohol teratogenesis appears to be more uniformly expressed in MZ than in DZ twins. These data are interpreted as reflecting the modulating influence of genes in the expression of the teratogenic effects of alcohol. © 1993 Wiley‐Liss, Inc.