title: Lethal neonatal mandibuloacral dysplasia.
abstract: We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows, pseudo-exophthalmos, micrognathia, bulbar digits, and short clavicles were present. In addition, we describe for the first time the presence of glandular hypospadias in this disorder. We propose that this neonatally lethal case represents severe expression of mandibuloacral dysplasia.
authors.affiliation: Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa.
authors.forename: M D
authors.initials: MD
authors.lastname: Seftel
authors.forename: C A
authors.initials: CA
authors.lastname: Wright
authors.forename: P L
authors.initials: PL
authors.lastname: Po
authors.forename: T J
authors.initials: TJ
authors.lastname: de Ravel
mesh_terms: D002968:Clavicle / Q000002:abnormalities*; D006801:Humans; D007021:Hypospadias / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D013577:Syndrome