Genetic studies in mental subnormality.

Date:
1973
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: Genetic studies in mental subnormality. Source: Wellcome Collection.

    85/100 (page 71)
    FAMILIES WHERE SIBLINGS HAVE SIMILAR BIOCHEMICAL DISORDERS 71 Births were normal at full term and early progress appeared to have been normal. The I.Q.s of the patients are 30, 54 and 60. They are dull, quiet and normally friendly, though the brother is liable to tempers. They resemble each other closely in having prognathic jaws and abnormally small rolled ears with adherent lobes, but kyphosis was present in case 58 only. They are thick set and inclined to obesity, but of normal height and normal sexual characteristics. Physically no other abnormalities are apparent, except for a supra¬ pubic scar the result of an operation for bladder- neck obstruction in the brother. Biochemical investigations and chromosomes are normal. E.E.G.s were normal in index cases 56 and 58, but not performed in index case 57. Inheritance : consistent with autosomal reces¬ sive form. Family sy—Microcephaly, cerebral diplegia, con¬ joined eyebrows, mild arachnodactyly, wide mouth, consanguinity The sibship consists of a brother (index case 59) aged 16, a sister (index case 60) aged 4 and three normal brothers. Parents are normal and first cousins. Of ten cousins, one has paralysis of arms and severe abnormality. Of the father's 9 siblings, one had Down's syndrome and one mental retardation. The paternal grandmother has long fingers. The boy (index case 59) was born at full term and was considered to be retarded at 7 months. He sat and could say a few words at i year. His I.Q^. is now less than 25. He has occasional major epilepsy and is quiet but prone to tan¬ trums, pica and coprophilia. Growth is retarded (height 116 cm.) and he has a small skull (circumference 49-5 cm.). He is dark haired with long eyelashes, conjoined eyebrows and wide mouth. He has severe spastic diplegia with spasticity and contractures in flexion of his lower limbs. No abnormal neurological signs were noted in the upper limbs or cranial nerves. He has a mild scoliosis and slightly long fingers (metacarpal index 6). The girl (index case 60) was born at 36 weeks gestation (birth weight 2-2 kilo.). She was noted to be backward at 13 weeks of age. At 4 years of age she was apathetic and unresponsive. Her I.Q,. was assessed as 15. There was no abnor¬ mality in the cranial nerves but had signs of cerebral diplegia. Both her hips were dislocated, and she had mild arachnodactyly. Biochemical investigations were normal. Inheritance : Probably autosomal recessive. Family sg—Obesity, dwarfism, tapering fingers, radial deviation of fingers, small mouth and nose, high arched palate, large ears, fused lobes The sibship consists of brothers (index cases 63 and 64) aged 17 and 15, born at full term weighing 2 kilo and 2 • 5 kilo respectively, and two normal brothers and a normal sister. The parents are normal and unrelated. No other instance of mental defect is known in the family. The elder (case 63) had feeding difficulties in the neonatal period but progressed unevent¬ fully until found to be retarded at 3 months when examined in hospital following a fall from his pram. Landmarks were delayed. He walked at 7 years and is still unable to speak. At 7 he had two major epileptic attacks. His I.Q,. is less than 25. He is a quiet, passive, small boy. Height 147'3 cm., but obese, especially over the trunk and thighs on which are striae. The eyes are prominent, his nose and mouth small and he has a high arched palate. The ears are large but of normal pattern apart from a fused right lobe. Hands, fingers, feet and toes are small and fine but not malformed. The fingers are radially deviated and curved. His palms have single transverse creases. The testicles are normal size and he has pubic and axillary hair. The younger (case 64) progressed normally until 5 months when he was said to have had encephalitis complicating pertussis, at which time he was considered 'not to be normal'. Landmarks were delayed. He walked at 7 years and can now say short sentences. His I.Q,. is 35. He is a happy 'chatterbox'. Facial characteristics and anomalies of the fingers and toes are the same as in his brother, though both his ear lobes are fused. The testicles are descended but small and