title: Sibs with acrocephalopolydactylous dysplasia (Elejalde syndrome) in a non-consanguineous family.
abstract: Acrocephalopolydactylous dysplasia, (Elejalde syndrome) is a rare condition; only six cases have been reported to date. We describe two infants born with Elejalde syndrome (ES); compare the clinical, pathological, and histological findings with those of known cases of Elejalde syndrome. The post-mortem histology study of the skin shows hyperplasia of connective tissues, a diagnostic sign in this condition. We describe cardiomegaly, cleft palate, and cryptorchidism not reported previously.
authors.affiliation: Department of Pediatrics, Sinai Children's Hospital, Chicago, Illinois 87020, USA. coonyeama@gmail.com
authors.forename: Charles O
authors.initials: CO
authors.lastname: Onyeama
authors.forename: Michael
authors.initials: M
authors.lastname: Lotke
authors.forename: Dennis
authors.initials: D
authors.lastname: Vickers
authors.forename: Terence
authors.initials: T
authors.lastname: Harper
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020752:Neurocutaneous Syndromes / Q000473:pathology*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000473:pathology*; D035781:Siblings