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10.1002/ajmg.1320360314.abs We report on familial occurrence of congenital diaphragmatic defect and associated midline anomalies, namely cleft palate and omphalocele in brothers. This family further supports the existence of an X‐linked gene involved in the organization of the embryonal...
10.1002/ajmg.1320360306.abs We report on 6 patients with short stature and progressive enchondromatous‐like changes of the vertebral bodies and the metaphyses of the long bones. Parental consanguinity was observed in 5 of 6 cases, supporting autosomal recessive inheritance. In spite of the...
10.1002/ajmg.1320360323.abs A girl is reported who has severe facial abnormalities with preaxial anomalies of upper and lower limbs indicative of Nager syndrome. Additional findings include marked microcephaly, mental retardation, and normal hearing.
10.1002/ajmg.1320360321.abs Anecdotal reports suggest that children with Williams syndrome are loquacious, affectionate, charming, open, and gentle. The temperament, or behavioral style, of individuals with Williams syndrome was assessed using standard temperament scales of parental response....
10.1002/ajmg.1320360324.abs A stillborn female with a “de novo” deletion of band 12p13 is described. Her main clinical manifestations are intrauterine growth retardation, unilateral cleft lip, protruding tongue, and small, low set, and posteriorly angulated ears. Comparison of this case with...
10.1002/ajmg.1320360308.abs We describe a family with a new disorder characterized by congenital hypotrichosis and spondyloepimetaphyseal dysplasia that results in mild rhizomelic short stature. Five individuals in 3 generations are affected with autosomal dominant inheritance.
10.1002/ajmg.1320360305.abs We report on a 4‐month‐old girl with congenital hypodipsic hypernatremia resulting from decreased sensitivity of the hypothalamic osmoreceptors with increased tonicity in association with hyperlipemia and cleft lip and cleft palate. We postulate that the link among...
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