Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.
We report on 2 unrelated boys with a distinctive facial appearance of microtia, atretic external auditory meati, small mandible, and microstomia, who also have a skeletal dysplasia, microcephaly, and joint contractures. The skeletal abnormalities, short stature, and microcephaly led to an initial diagnosis of osteodysplastic primordial dwarfism; however, the birth weight of one of the children is not low enough to firmly establish this diagnosis. The similarities were detected by the matching program of the London Dysmorphology Data-base.
Hurst
J A
JA
Hospital for Sick Children, London, United Kingdom.
Winter
R M
RM
Baraitser
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis*; D004431:Ear, External / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome