Two sisters with Escobar syndrome.
We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neuromuscular disorder is the underlying pathogenesis of Escobar syndrome.
Spranger
S
S
Institute of Human Genetics and Anthropology, University of Heidelberg, Germany.
Spranger
M
M
Meinck
H M
HM
Tariverdian
G
G
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D001176:Arthrogryposis / Q000503:physiopathology; D001827:Body Height; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome