Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: a hitherto unreported syndrome?
A 13-year-old boy and his 28-year-old sister had short stature, obesity, and a pattern of minor anomalies including a sloping, narrow forehead; small ears; a narrow nose with prominent bridge and long septum; short upper lip; receding mandible; and short limbs with brachydactyly and clinodactyly of little fingers. The boy also had hypoplastic external genitalia and elevated FSH. Both are of normal intelligence. There is remote consanguinity of the (normal) parents. The 2 sibs probably represent a hitherto un-recognized syndrome of possibly autosomal recessive inheritance.
Schinzel
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A
Institute of Medical Genetics, University of Zurich, Switzerland.
Bernasconi
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S
D000293:Adolescent; D000328:Adult; D003241:Consanguinity; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006130:Growth Disorders / Q000150:complications / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009765:Obesity / Q000150:complications / Q000235:genetics*; D013577:Syndrome