Multiple pterygium syndrome type Escobar in two brothers. Follow-up data from childhood to adulthood.
We present two brothers with Multiple Pterygium Syndrome type Escobar. Characteristic findings in this autosomal recessively inherited pterygium syndrome are, in addition to multiple pterygia, short stature, cleft palate, vertebral fusion defects and minor facial anomalies. The adult height in the two male siblings was below the third centile. Secondary sexual development and testicular size were normal, in contrast with the cryptorchidism and pubertal delay documented in most young patients.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Volcke
P
P
van den Berghe
H
H
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D005145:Face / Q000002:abnormalities*; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D012600:Scoliosis; D013577:Syndrome