Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs.
We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers. Consanguinity in their parents suggests autosomal recessive inheritance.
Carnevale
F
F
Department of Pediatrics, University of Bari, Italy.
Krajewska
G
G
Fischetto
R
R
Greco
M G
MG
Bonvino
A
A
D000009:Abdominal Muscles / Q000002:abnormalities; D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001763:Blepharoptosis / Q000150:complications / Q000235:genetics; D002648:Child; D003456:Cryptorchidism / Q000150:complications / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006618:Hip Dislocation, Congenital / Q000150:complications / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D013285:Strabismus / Q000150:complications / Q000235:genetics; D013577:Syndrome