title: Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay.
abstract: We report on six new families (12 new patients) with the syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. The most common findings were hand abnormalities, microcephaly, short and/or narrow palpebral fissures, broad nasal bridge, anteverted nostrils, ear abnormalities, and micrognathia. Inheritance is autosomal dominant. There is a significant amount of intrafamilial variability especially as it relates to the gastrointestinal findings. Although the first patients reported, who were very young, did not exhibit any developmental delay, they subsequently did develop learning problems, and 87% of our 12 patients had mental retardation or learning difficulties.
authors.affiliation: National Birth Defects Center, Waltham, Massachusetts 02154, USA.
authors.forename: M
authors.initials: M
authors.lastname: Feingold
authors.forename: B D
authors.initials: BD
authors.lastname: Hall
authors.forename: Y
authors.initials: Y
authors.lastname: Lacassie
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000473:pathology; D004386:Duodenum / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000473:pathology; D013577:Syndrome; D014138:Tracheoesophageal Fistula / Q000473:pathology