bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pigmentary dysplasias and chromosomal mosaicism: Report of 9 cases
Authors: Ohashi Hirofumi , Tsukahara Masato , Murano Ichiro , Naritomi Kenji , Nishioka Kazue , Miyake Susumu , Kajii Tadashi 
Published: June 2005

AbstractChromosomes were studied in 9 individuals with pigmentary dysplasias of the skin and other abnormalities. Of the 9 individuals, 5 were chromosomal mosaics in both blood lymphocytes and skin fibroblasts (46,XY/47,XY,+13;46,XX/47,XX,+14;46,XY/47,XY,+18;46,XX/47,XX,+18;46,XX/47. XX,+mar), while the other 4 individuals were chromosomally normal in both tissues studied. The pigmentary dysplasias involved hypo‐ or hyperpigmented patches/flecks or lines/whorls. The latter ran along Blaschko lines on the back, abdomen and the limbs. These patterns varied not only between individuals but also between different regions of an individual. The possibility of chimerism was studied but ruled out (1/32 to 1/256) in 7 individuals, using chromosomal heteromorphisms in the patients and their parents as markers. © 1992 Wiley‐Liss, Inc.
Joubert syndrome: A review
Authors: Saraiva Jorge M. , Baraitser Michael 
Published: June 2005

AbstractWe review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. We present the data regarding the clinical, neuroradiological, and ophthalmological manifestations and the prognosis of these 94 patients. We propose a classification of the patients with this diagnosis in 2 groups: those with retinal dystrophy and those without. Retinal dystrophy runs true in families and was never absent when renal cysts were reported. © 1992 Wiley‐Liss, Inc.
Craniorachischisis totalis and sirenomelia
Authors: Rodríguez José Ignacio , Palacios José 
Published: June 2005

AbstractWe report on a male infant with craniorachischisis totalis and sirenomelia, an association that seems to have been observed only 5 times before. In addition to these anomalies, the patient had hypoplasia of the phalanges of the right thumb. The pattern of associated malformations in infants with anencephaly and sirenomelia is reviewed. This condition, which combines cephalic and caudal defects of the embryo, could be considered an example of the “axial mesodermal dysplasia spectrum” and may be related to the midline developmental field concept. © 1992 Wiley‐Liss, Inc.
Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: A family presenting with congenital osteoma cutis
Authors: Izraeli Shai , Metzker Aryeh , Horev Gadi , Karmi Doron , Merlob Paul , Farfel Zvi 
Published: June 2005

AbstractThe syndrome of Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) is clinically and genetically heterogeneous. Classically, patients with PHP have the skeletal features of AHO, resistance to multiple hormones that work via cAMP such as parathyroid hormone and thyroid stimulating hormone, and deficient activity of Gs protein, the guanine nucleotide‐binding protein that stimulates adenylate cyclase. However, patients without hormone resistance but with AHO and Gs deficiency were described (PPHP), as well as patients with multiple hormone resistance but without AHO or Gs deficiency. In a few patients with deficient Gs activity, hypothyroidism rather than hypocalcemia was the initial presentation of the disorder. We describe here a new variant of the syndrome, affecting 5 individuals in a 3 generation family with AHO, normal Gs activity and hypothyroidism. In the first 2 generations, mild featuers of AHO were present. The 2 sibs in the third generation had severe manifestations of AHO, including mild mental retardation as well as hypothyroidism. Diagnosis of congenital osteoma cutis at birth of the proband led to the diagnosis of the family. Elucidation of the molecular defect will shed light on the relationship between hormone resistance and AHO, as well as on the physiological mechanism of hormonal signal transduction. © 1992 Wiley‐Liss, Inc.
Consanguineous marriage in Jordan
Authors: Khoury S. A. , Massad D. 
Published: June 2005

AbstractWe conducted a population‐based study of consanguineous marriages in Jordan. About two thousand households were interviewed. First cousin marriages were encountered in 32.03%, second cousin in 6.8%, distant relation in 10.5%, and no relation in 50% of all marriages, respectively. Inbreeding coefficients were compared with those of other countries. The most important variables affecting inbreeding were social tradition, religion, education, and place of residence—urban vs. rural. Secular trends appear rather stable since the early decades of the twentieth century, especially for first cousin marriages. Jordan society showed a deeply rooted traditional behavioral pattern when inbreeding is considered. © 1992 Wiley‐Liss, Inc.
Late‐onset localized junctional epidermolysis bullosa and mental retardation: A distinct autosomal recessive syndrome
Authors: Nakar Sasson , Ingber Arieh , Kremer Israel , Hodak Emmilia , Garty Ben‐Zion , Ben‐David Eitan , David Michael , Shohat Mordechai 
Published: June 2005

AbstractWe present 2 sibs with a local junctional type of epidermolysis bullosa associated with enamel defect of the teeth, dystrophic nails of the feet, and mental retardation. Subluxation of the lenses was evident in 1 of them. This combination found in a brother and a sister seems to represent a distinct autosomal recessive type of epidermolysis bullosa. © 1992 Wiley‐Liss, Inc.
Dominant syndrome with isolated cryptophthalmos and ocular anomalies
Authors: Saal Howard M. , Traboulsi Elias I. , Gavaris Paul , Samango‐Sprouse Carole A. , Parks Marshall 
Published: June 2005

AbstractWe report on a mother and daughter with nonsyndromal cryptophthalmos. Both patients have additional ocular anomalies, including microphthalmia, retinal dysplasia, and Peters anomaly. The periocular and lid changes seen in these individuals are distinct from those seen in typical cryptophthalmos. The apparent dominant mode of inheritance in this family distinguishes this condition from autosomal recessive isolated cryptophthalmos and from the Fraser or cryptophthalmos syndrome. © 1992 Wiley‐Liss, Inc.
Aarskog syndrome in a brazilian boy born to consanguineous parents
Authors: Guion‐Almeida M. L. , Richieri‐Costa A. 
Published: June 2005

AbstractWe report on a Brazilian boy (F = 1/16) born to consanguineous parents and presenting with typical Aarskog syndrome. Genetic aspects and phenotypic manifestations of this patient are compared with those of the (X‐linked) Aarskog syndrome and with the autosomal recessive faciodigitogenital syndrome. © 1992 Wiley‐Liss, Inc.
Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy
Authors: Dumic Miro , Gubarev Nikola , Sikic Nada , Roscher Adelbert , Plavsic Vesna , Filipovic‐Grcic Boris 
Published: June 2005

AbstractWe describe two sisters (40 and 42 years old) heterozygous for adrenoleukodystrophy who have multiple endocrine disorders. In addition to the characteristic neurological symptoms, the younger patient has Addison disease and primary hypothyroidism attributable to autoimmune thyroiditis, and the older one has Graves disease. Both patients have loss of body hair and sparse scalp hair, which have not been reported previously in women heterozygous for adrenoleukodystrophy. After the institution of glucocorticoid replacement therapy, the younger sister, who has adrenal insufficiency, has shown unexpected neurological improvement. © 1992 Wiley‐Liss, Inc.
Membranoproliferative glomerulonephritis in a child with Prader‐Willi syndrome
Authors: Robson Wm. Lane M. , Leung Alexander K. C. 
Published: June 2005

AbstractWe describe a girl with Prader‐Willi syndrome and membranoproliferative glomerulonephritis. She had a deletion at 15q11‐13. The deletion may have made the child susceptible to renal disease. © 1992 Wiley‐Liss, Inc.
Tyrosinase gene mutations in type I (tyrosinase‐deficient) oculocutaneous albinism define two clusters of missense substitutions
Authors: Tripathi Ram K. , Strunk Kathleen M. , Giebel Lutz B. , Weleber Richard G. , Spritz Richard A. 
Published: June 2005

AbstractType I (tyrosinase‐deficient) oculocutaneous albinism (OCA) results from mutations of the gene encoding tyrosinase, the enzyme that catalyzes the first 2 steps of melanin pigment biosynthesis. In type IA (tyrosinase‐negative) OCA tyrosinase enzymatic activity is completely absent, and in type IB (“yellow”) OCA tyrosinase activity is greatly reduced. Here, we describe 11 novel mutations of the tyrosinase gene in Caucasian patients with these 2 forms of type I OCA. Type I OCA in Caucasians appears to result from a great variety of different uncommon alleles. More than 80% of the known missense substitutions associated with type I OCA cluster within 2 relatively small regions of the tyrosinase polypeptide, suggesting that these may correspond to functionally important sites within the enzyme. © 1992 Wiley‐Liss, Inc.
Hypoglossia‐hypodactylia syndrome with jejunal atresia in an infant of a diabetic mother
Authors: David Albert , Rozé Jean‐Christophe , Rémond Sabine , Branger Bernard , Héloury Yves 
Published: June 2005

AbstractDespite advances in therapy for maternal diabetes, pregnancies of diabetic women remained at an increased risk of spontaneous abortion or delivery of an infant with major malformation. We report on an infant of a diabetic mother with hypoglossia‐hypodactylia associated with complete jejunal atresia. A common pathogenesis for these 2 malformations could be a vascular disruptive mechanism with in utero arterial thrombosis. © 1992 Wiley‐Liss, Inc.
Lacrimo‐Auriculo‐Dento‐Digital syndrome: Evidence for lower limb involvement and severe congenital renal anomalies
Authors: Bamforth J. Stephen , Kaurah Pardeep 
Published: June 2005

AbstractWe describe a 3‐generation family with lacrimo‐auriculo‐dento‐digital syndrome (LADD). In addition to the well described abnormalities of ears, teeth, lacrimal apparatus and digits, the patients exhibit several previously undescribed anomalies, including minor facial anomalies (broad forehead, telecanthus, bulbous nasal tip, full jaw, ptosis and flared nostrils), involvement of the first and second toes, and congenital renal disease causing death in the neonatal period in 2 cases. © 1992 Wiley‐Liss, Inc.
Overlap between Majewski and Hydrolethalus syndromes: A report of two cases
Authors: Sharma Anita K. , Phadke Shubha , Chandra Kartika , Upreti Mamta , Khan E. M. , Naveed M. , Agarwal S. S. 
Published: June 2005

AbstractWe present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib‐polydactyly syndrome, type Majewski.It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib‐polydactyly syndromes. © 1992 Wiley‐Liss, Inc.
King syndrome: A genetically heterogenous phenotype due to congenital myopathies
Authors: Chitayat David , Hodgkinson Kathy A. , Ginsburg Ophira , Dimmick James , Watters Gordon V. 
Published: June 2005

AbstractWe report on a patient with myopathy, kyphoscoliosis, joint contractures, and a facial appearance consistent with King syndrome. Unlike other reported cases, our patient had hyperextensible joints, normal stature, and pectus excavatum. The cardiac ventricles, aorta, and pulmonary artery were dilated. Malignant hyperthermia did not occur under anaesthesia although there was a transient increase in CK levels. Muscle bulk and tone were significantly decreased but collagen and elastin fibres were normal. The variable clinical presentation of King syndrome suggests that the manifestations are caused by different congenital myopathies and in all cases there is probably an increased risk of malignant hyperthermia. © 1992 Wiley‐Liss, Inc.
Branchio‐Oto‐Renal syndrome: Further delineation of an underdiagnosed syndrome
Authors: Chitayat David , Hodgkinson Kathy A. , Chen Moy‐Fong , Haber George D. , Nakishima Shigeto , Sando Isamu 
Published: June 2005

AbstractWe report on a woman who was diagnosed with branchio‐oto‐renal (BOR) syndrome after 2 pregnancies complicated by oligohydramnios due to renal hypoplasia and agenesis. Both babies died neonatally of pulmonary hypoplasia. Histopathology of the temporal bones of the second child showed marked immaturity of the middle ear cleft, ossicles, facial nerve and canal, and cochlear nerve. Maternal renal ultrasound study was normal although intravenous pyelography indicated renal hypoplasia. The frequency of BOR syndrome among cases of recurrent fetal renal hypoplasia/dysplasia or agenesis is unknown, and parental renal ultrasonography may not identify a heritable renal defect. Investigations should include a family history, and examination of relatives to look for preauricular pits, lacrimal duct stenosis, and branchial fistulae and/or cysts. Hearing studies and IVP may be indicated. © 1992 Wiley‐Liss, Inc.
Risk of hepatoblastoma in familial adenomatous polyposis
Authors: Hughes Linda J. , Michels Virginia V. 
Published: June 2005

AbstractInfantile and childhood hepatoblastoma occurs more frequently in persons heterozygous for the familial adenomatous polyposis (FAP) gene than in the general population. This observation is based on numerous case reports plus the results of an international survey of FAP registries. However, the frequency of this rare tumor in FAP patients is unknown. In a retrospective review of our family history data, 2/470 (0.42%) children born to 241 patients with FAP had hepatoblastoma. This figure is significantly higher than the 1/100,000 incidence of hepatoblastoma in the general population. However, for genetic counseling purposes, an empiric risk of <1% for hepatoblastoma can be cited to persons with FAP for their children. © 1992 Wiley‐Liss, Inc.
Detection of the heteromorphic spectrum of heterochromatin in the human genome by in situ digestion using restriction endonuclease Alui
Authors: Luke Sunny , Verma Ram S. 
Published: June 2005

AbstractA battery of selective banding techniques has been utilized to identify the heteromorphic markers in the human genome. The recent addition of the AluI/Giemsa (G)‐technique has helped not only in identifying the variable sites, but in characterizing their heteromorphic spectra. In the present investigation, we classified the pericentromeric heterochromatin by the AluI/G‐technique by its size and position using 50 normal individuals and suggested the potential uses of this banding technique over earlier methods. © 1992 Wiley‐Liss, Inc.
Tightly linked polymorphic markers for fragile X syndrome and prenatal cytogenetic diagnostic experience
Authors: Glass IA , Mastro RG Del , Lanyon WG , Raeburn JA , Kilpatrick MW , Webb Tp , Connor JM 
Published: June 2005

AbstractLinkage analysis using the polymorphic loci DXS369, DXS296, DXS297 and DXS306 was carried out on a cohort of 17 families segregating for fragile X syndrome. The observed recombination fractions at: DXS369 (Zmax = 3. 02; theta=0. 06), DXS297 (Zmax= 2. 92; theta = 0.0), DXS296 (Zmax = 3. 82; theta = 0.0), DXA306 (Zmax = 4. 55; theta = 0.05) confirm that these loci are tightly linked to FRAXA. Our experience in the cytogenetic analysis of 58 at risk pregnancies by chorionic villus or fetal blood sample examination documents a false negative rate in obligate carrier male pregnancies for CVS of 11% and for FBS of 3%.
Delayed replication of Xq27 in individuals with the fragile X syndrome
Authors: Webb Tessa 
Published: June 2005

AbstractThe timing of late replicating bands on the X chromosome has been studied in individuals with the fragile X [fra (X)] syndrome. Compared to controls both affected individuals and symptomless carriers of the syndrome show delayed replication of the Xq27 region as shown by 2 different methods. The implications of this finding are discussed in relation to the proposal [Laird et al., 1987] that the fraX syndrome is associated with a failure to reactivate the Xq27 band correctly after it has been inactivated in a female.
Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community
Authors: Jaber Lutfi , Merlob Paul , Bu Xiangdong , Rotter Jerome I. , Shohat Mordechai 
Published: June 2005

AbstractIt is common among Israeli Arabs who live in the villages to prefer consanguineous marriages, particularly among first cousins. In addition, such villages are populated by a few (< 20) original families, and inter‐family/inter‐village marriages are infrequent. The purpose of this study was to examine the consequences of such “consanguinity” in Taibe, a large Arab village, 30 km from Tel Aviv. Six hundred ten families were prospectively ascertained through infants who were routinely seen in the local “Well Baby Clinics.” A significant increase in the incidence of major malformations was noted in relation to the closeness of the parental relationship. For the index cases group the prevalence of individuals with major malformations were 5.8% in the product of inter‐village marriages, 8.3% in the intra‐village non‐related matings, 15.1% in the distant consanguineous group, and up to 15.8% in the progeny of first‐cousin marriages (P < 0.001). In the siblings of these index cases, the frequency of major malformations was 4.3%, 4.5%, 10.5%, and 10.3%, respectively. Analysis of the major malformations by each body system showed the same trend. The study demonstrates a marked high rate of consanguineous marriages, whose effect leads to a marked increase in major malformations and thus a prominent public health problem in such villages. This requires a unique genetic counseling approach. © 1992 Wiley‐Liss, Inc.
Double mosaic aneuploidy: 45, X/47,XY,+8 in a male infant
Authors: Schofield B. , Babu A. , Punales‐Morejon D. , Popescu S. , Leiter E. , Franklin B. , Penchaszadeh V. B. 
Published: June 2005

AbstractWe report on a 13‐month‐old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial peno‐scrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage. © 1992 Wiley‐Liss, Inc.
Ullrich‐turner syndrome with unilateral agenesis of breast, nipple, and pectoralis major
Authors: Cohen Amnon , Lavagetto Antonella , Romano Cesare 
Published: June 2005

AbstractA 16‐year‐old girl with mosaic Ullrich‐Turner syndrome [45,X/46,X,i(Xq)] had agenesis of the left breast, nipple, pectoralis major, and agenesis of hair follicles of the left axilla. This appears to be the first description of this anomaly in the Ullrich‐Turner syndrome. © 1992 Wiley‐Liss, Inc.
Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: A new syndrome?
Authors: Hardikar W. , Smith A. L. , Keith C. G. , Chow C. W. 
Published: June 2005

AbstractA number of systemic abnormalities associated with cholestasis have been reported in the literature. This paper describes two unrelated patients with cholestasis and an unusual constellation of abnormalities including cleft palate/lip, hydronephrosis/hydroureter, retinal pigmentation, and intestinal septum. © 1992 Wiley‐Liss, Inc.
7p Deletion syndrome: An adult with mild manifestations
Authors: Grebe Theresa A. , Stevens Mark A. , Byrne‐Essif Karen , Cassidy Suzanne B. 
Published: June 2005

AbstractDeletion of 7p results in a wide spectrum of congenital abnormalities and minor facial and hand anomalies, often including crani‐osynostosis. We report on the oldest recognized patient with this disorder, a 24‐year‐old woman with an interstitial deletion from p15.3‐p21.2 or p21.3. The manifestations in this patient are milder than those of previously described patients, and include borderline mental retardation, short stature, minor facial anomalies, and several skeletal changes. The absence of craniosynostosis in this patient is noteworthy, given previous suggestions that there is a specific locus for this finding in the 7p region. Twelve cases of 7p deletion, in which the missing segment overlaps that of the current case, are reviewed. This case delineates a broader spectrum for patients with 7p deletion syndrome. © 1992 Wiley‐Liss, Inc.
Unbalanced translocation 46,xy,−15,+der(22)t(15;22)(q13;q11)pat: Case report and review of the literature
Authors: Van Hove Johan L. K. , McConkie‐Rosell Allyn , Chen Yuan‐Tsong , Iafolla A. Kimberly , Lanman Joseph T. , Hennessy Mark D. , Kahler Stephen G. 
Published: June 2005

AbstractWe present a boy with a rare unbalanced translocation 46,XY,−15,+der(22),t(15;22)(q13;q11) pat. Previous reports of similar chromosome findings mention only the Prader‐Willi phenotype. At birth, his manifestations included severe hypotonia and lethargy, (typical of deletion of 15pter→q13); hypertelorism, down‐slanting small palpebral fissures, preauricular tags, long philtrum (typical of duplication of 22pter→q11); severe laryngotracheo‐malacia, and proximal implantation of the thumb. In a review of the literature on chromosome abnormalities involving duplication of 22q11 the associated clinical phenotype consists of mild mental retardation, microcephaly, hypotonia, hypertelorism, down‐slanting palpebral fissures, a long philtrum, cleft or highly arched palate, and ear abnormalities. Preauricular pits or tags are common. Cardiovascular defects, renal and genital problems and dislocated hips are frequently present. Anal atresia and colobomata are mainly seen in cat‐eye syndrome, the phenotype associated with idic 22q11. Our findings indicate that patients with unbalanced t(15;22) can have manifestations of the dup 22q11, in addition to the previously reported Prader‐Willi phenotype, even if the duplicated segment is small. © 1992 Wiley‐Liss, Inc.
Unusual short rib‐polydactyly syndrome
Authors: Tsai Yung‐Chieh , Chang Jye‐Min , Changchien Chan‐Chao , Eng Hock‐Liew , Chen Wei‐Jen , Lui Chun‐Chung , Huang Churng‐Bin 
Published: June 2005

AbstractWe present a case of lethal short rib‐polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS. © 1992 Wiley‐Liss, Inc.
Glaucoma‐lens ectopia‐microspherophakia‐stiffness‐shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill‐Marchesani syndromes
Authors: Verloes Alain , Hermia Jean‐Paul , Galand Albert , Koulischer Lucien , Dodinval Pol 
Published: June 2005

AbstractWe report on a syndrome of progressive joint stiffness, glaucoma, and lens dislocation observed in three generations and compare it with two previous records of short stature, lens ectopia, and articular limitation. This family confirms the existence of a dominant Weill‐Marchesani‐like syndrome. We suggest that it could be related to the Moore‐Federman syndrome. We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspher‐ophakia, Stiff joints, Short stature) to distinguish this dominant Weill‐Marchesani‐like syndrome from the classic, recessively inherited syndrome. © 1992 Wiley‐Liss, Inc.