title: Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development.
abstract: We report on 2 brothers from a consanguineous Moslem family with prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and convulsions from birth. Phenotypic anomalies consisted of a prominent glabella, arched eyebrows, a low upswept frontal hairline, a small pinched nose, large posteriorly rotated ears with overfolded upper helices, partial camptodactyly, and widespaced nipples. Psychomotor development was absent, and there was marked failure to thrive. Death occurred at ages 21 days and 7 months, respectively. Postmortem examination on one child showed dilated cerebral ventricles and hydronephrosis. Microcephaly was detectable by fetal ultrasound in one brother at 17 weeks of gestation.
authors.affiliation: Department of Clinical Genetics, University of Birmingham, Edgbaston, England.
authors.forename: K D
authors.initials: KD
authors.lastname: MacDermot
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome