A Syndrome of Mental and Physical Retardation, Speech Disorders, and Peculiar Facies in Two Sisters

Case 1 (IV.1) (see Fig. 1). This girl was born on 21 September 1961. Her mother was 22 and her father 24 years old at the time of birth. The only known unusual event during pregnancy was a large umbilical hernia and an abdominal x-ray was taken at about 30 weeks of gestation. Labour was induced by amniotomy and oxygen was given during labour because of a tetanic contraction. Delivery was uneventful but the newborn was anoxic and required active resuscitation. The birth weight is unknown. She remained in the nursery for a week because of feeding difficulties and occasional vomiting of blood. Both physical and motor developments were slow from birth and during the first 3 months of life she had frequent crises of irritability and hypertonicity. She first raised her head at 4 months, sat at 6 months, and started walking at 30 months. At 18 months she began to speak isolated words and was able to construct short sentences at 48 months; there was then evidence of a speech impairment which persists to the present time. She had had no other serious illness. Physical examination. She was first examined by the author at 71 years. The findings at that time were as follows: weight 17-5 kg; height 110 cm; vertex-pubis 57 cm; head circumference 45 cm; chest circumference 57 cm. All these measurements, except for the chest circumference, were below the 3rd centile for age and sex. The significant positive physical findings were: microbrachycephaly with narrow sloping forehead; marked hypertelorism, small palpebral fissures (blepharophimosis) with anti-mongoloid slant; long curly eyelashes, light blue iris, severe photophobia, hypermetropia, and normal fundi. The nose was broad and straight with a lack of depression at the bridge. The mouth was wide-tented, with outward and downward slant of the corners, the upper lip covering the visible mucosal portion of the lower lip. She had a high