Dysmorphology short reports Unknown syndrome: abnormal

severe retardation: a second patient SUMMARY In the November 1987 issue of this journal, Young and Simpson ' presented a female infant with abnormal facies (microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, and micrognathia), congenital heart abnor-malities (large atrial and ventricular septal defects), congenital hypothyroidism, and severe global retardation. We have observed a male newborn with a similar pattern of malformations (figs 1 and 2). History Prenatal. No cigarettes or alcohol. No medication. Hy-dramnios at five months. Birth. Caesarean section (hydramnios and postmaturity of 42 weeks). Required resuscitation. Apgar scores 1 at one minute, 4 at 10 minutes. Despite intensive therapy death occurred after 12 hours. Family. First child of healthy unrelated parents. Spon-taneous first trimester abortion in first pregnancy. Father aged 34 years, mother 32 years. Clinical examination Clinical postmortem findings. Weight 2600 g (3rd centile), length 46.5 cm (3rd centile), head circumference 35 cm (25th centile). Sloping forehead, prominent occiput, large posterior fontanelle, high nasal bridge with bulbous nasal tip, small palpebral fissures in normal position, thin upper lip, low set ears with prominent antihelix, marked micro-retrognathia, small tongue, cleft soft palate. bilateral simian crease, camptodactyly of fourth and fifth fingers, absence of distal interphalangeal creases, rockerbottom feet, lumbar hyperlordosis, bilateral cryptorchidism. Internal findings. No internal malformations except for a mobile caecocolon and absence of thyroid. No ectopic thyroid tissue. No gross malformations of the brain; en-largement of the aqueduct of Sylvius and fourth ventricle. FIG 1 AP view ofthe dead neonate. Receivef rpblicaton18ovembe1987.FIG2 Lateral face. Note the sloping forehead, high nasal Ac pt22c1987.bridge,and marked microretrognathia