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10.1002/ajmg.1320410224.abs We present 2 new patients with the megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and treatment. MMIHS, as reported in 43 cases, is usually lethal. Most children die during the first year...
10.1002/ajmg.1320410217.abs We describe a girl, one of monozygotic (MZ) twins, with endocrine dysfunction with precocious puberty, café‐au‐lait nevi and poly‐ostotic fibrous dysplasia (PFD), McCune‐Albright syndrome (MAS). After treatment with cyproterone acetate for 7 years the...
10.1002/ajmg.1320410202.abs We describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and...
10.1002/ajmg.1320410213.abs We report on 2 brothers with marked eye anomalies, documented with histopathological studies, and several other findings fitting the diagnosis of both the Cohen and the Mirhosseini‐Holmes‐Walton syndromes. In accordance with Norio and Raitta (Norio R, Raitta C...
10.1002/ajmg.1320410218.abs We report on 2 Japanese patients (a 3‐year‐old girl and an 20‐month‐old boy) with the Weaver syndrome. The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild...
10.1002/ajmg.1320410211.abs We describe a brother and sister with Hirschsprung disease, hypotonia, and ptosis. Their condition resembles that in 2 sibs reported by Goldberg and Shprintzen. We conclude that the clinical characteristics in 8 reported cases with similar clinical manifestations...
10.1002/ajmg.1320410209.abs We identified an isochromosome of 18p (47, XY, + i(18p)) conclusively by in situ hybridization of an 18p‐specific probe (B74; D18S3) to metaphase chromosomes of an affected patient. Clinical findings included mental retardation, microcephaly, and an atrial septal...
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