This is a report of a 16-year-old boy with mental deficiency, shortness of stature, peculiar face and skull, multiple skeletal anomalies, limb contractures, total alopecia, and probable hypothalamic hypogonadism. A striking resemblance exists between this case and a female adolescent described in 1980 by Schinzel. It is suggested that these two cases represent a previously unrecognized syndrome. The fact that this boy was born from a first-cousin marriage suggests autosomal recessive inheritance Key words: mental deficiency, growth failure, multiple skeletal anomalies, alopecia totalis, autosoma1 recessive inheritance
INTRODUCTIONWe report a 16-year-old boy with total alopecia, multiple skeletal anomalies, severe growth failure, and mental deficiency who shows such a striking resemblance to a recently published case that we think he may be representative of a new malformation syndrome.
CASE REPORTThe propositus is a boy born to first-cousin parents; he was referred to us at 15.7 yr because of lack of sexual maturation. He is the second of two children; his brother is normal. Except for parental consanguinity the family history is unremarkable. The following history is partly based on information gathered from another hospital which he attended frequently before being institutionalized for mental deficiency.
van GelderenThe boy was born 10 days before term; birth weight was 2,100 gm. Incubator care was necessary because of respiratory distress. The peculiar forms of head and face were noted in the neonatal period. He remained in the hospital for several months because of feeding difficulties and bilateral congenital buphthalmos; the latter was treated successfully with goniotomy . Psychomotor development was slow and mental retardation soon became evident. A chromosome study at 2 yr was inconclusive; nevertheless, the attending pediatrician considered a chromosome anomaly to be the most likely cause of the mental deficiency and malformations and no further diagnostic investigations were done.At 2% yr first mention was made of sparse hair and before reaching 7 yr he was completely bald with absent eyebrows, eyelashes, and body hair. Growth has been slow and his height has always been below the 3rd centile. Sexual maturation did not occur at the appropriate age.Kyphoscoliosis was noted at birth. Bilateral dislocation of the hips has been treated surgically. He still walks with some difficulty.The boy is described as an easy-going child with a happy disposition. He attended a school for the retarded without improvement of IQ. He lived at home until he was 16 years old. Then the parents accepted advice to have him institutionialized. Several psychological tests have shown an IQ of about 40.On first examination at 15.7 yr (Figs. 1-3) he was 122.5 cm tall; the turridolichocephalic head measured 52 cm (occipito-frontal circumference). Scalp hair, body hair, eyebrows, and eyelashes were absent; the skin everywhere was very smooth without hyperkeratosis. His facial appearance was rather odd because of a prominent nose wit...
Assessment of the results of treatment of tall girls with estrogens by comparing actual mature height with predicted mature height is unreliable, unless the accuracy of prediction has been tested in untreated tall girls. We report such an investigation in 14 tall girls who were treated with estrogens and in 14 untreated tall girls. Of the three prediction methods, those of Bayley and Tanner were reliable in our hands, whereas the method of Roche was less adequate. The mean reduction of height by treatment was about 7 cm using Tanner's method of prediction, 10 cm when Bayley's method was used. The standard deviation of the difference between actual and predicted height as found in untreated girls makes it hazardous to assess the amount of height reduction in the individual treated case with any certainty.
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