American Journal of Medical Genetics 18: 431-433 (1984)

A New Syndrome Short Limbs, Abnormal Facial Appearance, and Congenital Heart Defect

M. Barrow and J.S. Fitzsimmons

Clinical Genetic Service, City Hospital, Nottingham, England

THE SYNDROME

Main manifestations. Male with short-limb dwarfism and facial anotnalies.

Prenatal history. Coryza1 illness for 2 days at 12 weeks of pregnancy. No

Birth history. Normal term delivery. Family history. Healthy unrelated parents. Mother: 29-year-old primigravida;

height, 155 cm. Father: 30 years old; height, 175 cm. No relatives with limb shortness.

Clinical examination at birth. BL, 41.2 cm (< 3rd centile). OFC, 33.0 cm <3rd centile). BW, 2.84 kg (-1 SD). Cyanotic baby with severe rhizomesomelic limb shortness affecting upper limbs more severely than the lower limbs (Fig. IA).

Head and face. Posteriorly sloping forehead with prominent bridge of nose, epicanthal folds, narrow palpebral fissures with slight upslant, midline capillary haemangioma over glabella, upper and lower lip, micrognathia, thin vermilion bor- ders of lips (Fig. 1B).

Single ventricle with truncus arteriosus.

medication, cigarettes, or alcohol.

Neck and chest. Apparently short neck, normal chest without rib deformity. Hands. Normal fingers and nails. Bilateral single palmar crease. Genitalia. Cryptorchidism. Feet. Mild bilateral talipes equinus. Neonatal history. The baby’s condition at birth was good (Apgar 10 at 3

minutes), but he became cyanotic and breathless during the first day of life, developed intractable heart failure during the next 21 days, and died of heart failure at 24 days.

Received for publication August 30, 1983; revision received November 7, 1983

Address correspondence to M. Barrow, Clinical Genetic Service, City Hospital, Hucknall Road, Nottingham, England NG.5 IPB.

0 1984 Alan R. Liss, Inc.

432 Barrow and Fitzsirnmons

Fig. I . A) Rhizonielic upper limb shortening more severe than in lower limbs. Facial dysmorphism with epicanthic folds and narrow palpebral fissures. B) Lateral face demonstrating sloping forehead and prominent nasal root.

Fig. 2. shortening of humeri.

A) Radiographic evidence of chondrodystrophy, thickened and shortened fcinora. B) Marked

A New Syndrome 433

Postmortem findings. Everything normal except for the following: Cardiovascular system. Single hypertrophied ventricle leading into truncus ar-

teriosus, which divided into right and left pulmonary arteries and continued as aorta. Hypoplastic left atrium with absent mitral valve and left ventricle.

Lungs. Anatomically normal with no thoracic deformity nor pulmonary hypoplasia.

Genitulia. Testes were intraabdominal and appeared normal. Radiological jndings. Unclassifiable chondrodysplasia with rhizomesomelic

Chromosomes. Normal. Parental radiograms. Normal.

limb shortness, worse in upper than in lower limbs (Fig. 2A, B).

ACKNOWLEDGMENTS

Prior to submission for publication this case was evaluated by Professor Spran- ger (Maim) and Professor Sauvegrain (Paris) without arriving at a diagnosis. The authors thank them for their interest and suggestions.

Edited by F.C. Fraser and M. Prevs