I1HE subject of this report, a male child, was born on November 13, 1935, at MIarch, Cambridgeshire. No case of developmental abnormality had occurred in the family of either parent, and there was no consanguinity. Pregnancy and labour had been normal. The mother, a primipara, aged 31 years, was one of a family of six. Her eldest brother is healthy; an elder brother and sister survived only a few hours; whilst two younger sisters are alive and well. The elder of these has produced one healthy child; the younger's first child died in infancy; a second survives and is normal. Her father died at the age of 62 years; her mother is alive and well. One maternal aunt died in a mental home. The father, aged 37 years, had been married twice previously. There were no issue by his first wife, but one healthy child by the second. He was the eldest of a family of six, all of whom survive and are normal except the third who died in infancy. One of his brothers has a healthy child. His father is alive and well, but his mother had died two years previously. A normal child has since been born. Dr. J. A. Hislop, of March, invited one of us (E.R.) to see the infant when thirty hours old. It appeared to be normal in every respect apart from the entire absence of eyes. The birth weight was M lbs. 10 ozs. The eyelids were normal and the lacrymal puncta present. The palpebral apertures just admitted the tip of the little finger. Two smooth conjunctival sacs were explored but no vestige of a globe could be detected. The orbital cavities seemed to be smaller than normal. The child progressed normally for a few days but later failed to put on weight, which on the tenth day was only 6j lbs. Breast feeding was only possible for the first week. It was admitted to Addenbrooke's Hospital, Cambridge, under the care of Dr. Leslie Cole, and gained weight steadily until shortly before its death (January 8, 1936) from bronchopneumonia. A post-mortem was performed and the brain and orbits removed for microscopic examination. The only abnormal post-mortem findings, apart from those relating to the visual apparatus, were a patent foramen ovale (which measured 2 by 3 centimetres), and bronchopneumonic changes in the lungs. The thymus was normal in size and the testicles had descended to the scrotum. 353 copyright.
OF recent years there have been reported in continental and American literature a number of cases showing an association of adiposity, polydactyly, retinlitis pigmentosa and mental retardation, often among several members of a family.The descriptioins given by various authors show a remarkable similarity, not only in the main features of the condition, but also in minor characteristics, aiid the case I have to describe is typical in this respect. PERSONAL CASE.Helen H., age 5, was admitted as an imbecile. The family history oni the father's sidc is negative. The mother is one of four children; her elder brother had two thumbs on one hand. She is plump, a tendency which runs in the familv. She had six pregnancies-(1) a girl, age 10, is normal mentally but has webbed toes on each foot; (2) a girl, also has webbed toes; (3) a boy of 6, quite normal; (4) the patient; (5) a boy, who died when 10 days old of bleeding from the nose, mouth, and rectum, and who had six fingers onI each hand and six toes on each foot; (6) a boy, stillborn, with a deformed head.The patient was a full-term child weighing 12 pounds and the mother says it was an easy confinement. Squint and nystagmus were noticed soon after birth. The child grew rapidly, but required no more feeding than others. She had two teeth at seven weeks. She started walking at two, but did not talk till four. The only illnesses were uhooping cough and bronchitis.She is a tall child with marked adiposity. Her lheight is 111 cm. (3 ft. 7 in.) and weight 28 kg. (4 st. 3 lb.). Her face is full but not puffy; she has red cheeks and delicate features. The obesity is most marked round the mammae, abdomen and thighs, lessening towards the extremities. The skin is soft, cold and glabrous, and the hands and feet tend to be blue and puiffy. The hair of the head is fine and dry; there is very little on the body and the eyebrows are scanty. The head is large, with big parietal eminences, circumference 52-8 cm. (21 in.). The fingers are tapering with incurving of the little finger, on the outer side of the proximal phalanx of each of which is a small fleshy mass. Each foot has six toes, with the second and third webbed. There is some genu valgum and flat foot. The heart and lungs are negative and reflexes are normal.There is internal strabismus of the right eye, and nystagmus of the left. A condition of hemeralopsia is present. Objectively, a concentric diminution of the visual fields is apparent to rough testing. The discs are pale, with pigmentation round the right disc, but there is no typical retinitis pigmentosa.Mentally the girl is lethargic, appears to take little interest, and often will not answer questions, though some of her voluntary remarks indicate that she takes more niotice than is apparent. She will sit for hours looking at pictures, or will stand quite still doing nothing. She is emotionally labile, but usually placid and contented, with occasional outbursts of temper. She has no abnormal craving for food or drink, but has a good appetite. She is clean and tidy.
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