Cornelia de Lange syndrome with ring chromosome 3.

A 4 month old male infant was referred to the genetic clinic for investigation of 'odd facies'. He had been admitted to the paediatric ward with respiratory infection and septicaemia. He was the first child of consanguineous parents (first cousins), born after 40 weeks of gestation. There was no history or suggestion of exposure to teratogens or infection during the pregnancy and delivery was normal. His mother and father were 26 and 40 years old, respectively, at conception. The infant was born one year after marriage and there had been no preceding fetal loss. No physical abnormality was reported in family members. At birth he was 48 cm long, weighed 2400 g, and his Apgar scores were 8 and 10 at five and 10 minutes. Excess lanugo hair was also noted as well as synophrys. On physical examination at 4 months of age, his length, weight, and head circumference were below the 3rd centile. The anterior fontanelle measured 1 x 1 cm and was flat. Skull transillumination was negative. He had a small head, bushy eyebrows, and synophrys, and the hairline was low. Generalised hirsutism and cutis marmorata were noted. His eyes were small. He had large ears (4-5 cm, 97th centile) with a preauricular sinus on the right side. The nasal bridge was wide, the nostrils were upturned, and the philtrum was long (1 cm, 97th centile). The mouth was downturned and the upper lip was thin. He had retrognathia and a high arched palate. The phallus was short with hypospadias. There was a pilonidal sinus. The elbows and knees could not be extended fully. He had short fingers with brachymesophalangy and clinodactyly of the little fingers. His dermatoglyphic analysis showed short and interrupted main creases and absent triradius b on both sides. The second digits had an arch pattern with ulnar loops in the rest. Examination of the cardiovascular system indicated normal heart sounds with a short, soft systolic murmur in the third left space. The respiratory system was normal. The liver was just palpable. He has not yet attained head control or social smile. Radiographs showed delayed skeletal maturation and normal heart contour. ECG was within normal limits. Ultrasonography of the abdomen was normal.