In 1983, Johnson et al. described 16 related individuals with @entity1665 , @entity4838 or @entity9905 , conductive @entity393 , @entity9407 and/or @entity1146 of the external auditory canal, and @entity6126 inherited in an autosomal dominant pattern. Other less constant manifestations included @entity7439 , @entity1032 , congenital @entity299 , @entity2419 , and @entity850 . An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and @entity5461 (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female @entity1 with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, @entity4242 , @entity1665 , bilateral @entity9407 with canal @entity1146 , conductive @entity393 , @entity3541 , @entity2419 , @entity850 , tetralogy of Fallot, @entity245 , and @entity26228 . Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second @entity4802 , Rathke's pouch, and the diencephalon. @entity9407 with conductive @entity393 differentiates the condition from other @entity2321 . In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our @entity1 manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset @entity1665 in the maternal grandfather's relatives.

Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive XXXX and @entity9407 : report of a new case.

@entity1665 :: ('MESH:D000505', 'Disease') :: ['alopecia'] @entity5461 :: ('6651', 'Gene') :: ['son'] @entity1032 :: ('MESH:D008607', 'Disease') :: ['mental retardation'] @entity1 :: ('9606', 'Species') :: ['patient'] @entity4802 :: ('MESH:D006053', 'Disease') :: ['branchial arches'] @entity850 :: ('MESH:D003251', 'Disease') :: ['left choanal stenosis', 'choanal stenosis'] @entity2321 :: ('MESH:D004476', 'Disease') :: ['ectodermal dysplasias'] @entity2419 :: ('MESH:D002972', 'Disease') :: ['posterior cleft palate', 'cleft palate'] @entity4242 :: ('MESH:D008831', 'Disease') :: ['microcephaly'] @entity245 :: ('MESH:D002658', 'Disease') :: ['developmental delay'] @entity299 :: ('MESH:D006331', 'Disease') :: ['heart defect'] @entity26228 :: ('MESH:C536332', 'Disease') :: ['right thumb polydactyly'] @entity1146 :: ('MESH:D018633', 'Disease') :: ['atresia'] @entity9905 :: ('MESH:C564321', 'Disease') :: ['hyposmia'] @entity3541 :: ('MESH:D005158', 'Disease') :: ['partial left facial palsy'] @entity6126 :: ('MESH:D007006', 'Disease') :: ['hypogonadotrophic hypogonadism'] @entity4838 :: ('MESH:D000857', 'Disease') :: ['anosmia'] @entity9407 :: ('MESH:D065817', 'Disease') :: ['microtia', 'Microtia'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing loss'] @entity7439 :: ('MESH:D005146', 'Disease') :: ['facial asymmetry']
@entity393 :: (MESH:D034381,Disease) :: ['hearing loss']
