Images in medicine - Robinow syndrome

A 10-year Hispanic girl, born of unrelated parents (first child of a 36-year-old woman and a 42-year-old man), after a normal pregnancy, had presented with short stature and facial dysmorphism. There was no significant peri-natal history and family history was negative for birth defects and genetic disorders. Anthropometry at 6-months revealed weight of 4300 gms, height of 54 cms, and head circumference of 36 cms (all < 3rd centile). There was history of neonatal jaundice and recurrent respiratory infections in infancy and childhood. Examination revealed dysmorphic facial features (including macrocephaly, frontal bossing, hypertelorism (interpupillary distance of 7 cms), prominent eyes, down-slanting palpebral fissures, small nose, prominent philtrum, down turned angles of the mouth, crowded teeth and posteriorly rotated ears) (Figure 1), brachymelia with brachydactyly, camptodactyly (Figure 2), mid-thoracic scoliosis with hemivertebrae and rib crowding (Figure 3), and genital anomalies in the form of hypoplastic clitoris and labia majora. She had hypoplastic nails in all digits, hyperlaxity of joints in upper and lower limbs, with associated skin laxity. There was no evidence of any umbilical or abdominal wall anomalies and no associated organomegaly. She had a cleft palate that was repaired at the age of 2 years. Anthropometry (at age 10) revealed a height of 136.5 cms (25th-50th percentile), weight of 39.5 kg (75th-90th percentile), mesomelic dwarfism with UL: LL ratio of 1.6 and forearm brachymelia with arm to forearm ratio of 1.5: 1. She was Tanner stage I in terms of sexual maturity, had obvious neurological and developmental delay with a functioning I.Q at a 4-year-old level. Her bone age was 8 years 5 months at a chronologic age of 10 years. CT brain revealed an absent corpus callosum, while cardiac assessment did not reveal any associated anomalies. Endocrine work-up (Growth hormone, LH, FSH, oestrogen, progesterone, IGF-1, T3,T4, and, TSH) as well as immunological work up (T-cell and B-cell functions) was normal. A diagnosis of Robinow syndrome was made