Microcephalic osteodysplastic dysplasia.
We present two patients with a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, microcephaly, and normal intelligence. Similar radiographic abnormalities of the spine, long bones, hands, and feet were noted. These patients are similar to 2 males previously described by Saul and Wilson [1990: Am J Med Genet 35:388-393]. These 4 patients appear to have a unique skeletal dysplasia characterized by microcephaly, distinct facial phenotype, multisystem abnormalities, and short stature of postnatal onset.
Hersh
J H
JH
Department of Pediatrics, University of Louisville, Kentucky.
Joyce
M R
MR
Spranger
J
J
Goatley
E C
EC
Lachman
R S
RS
Bhatt
S
S
Rimoin
D L
DL
D000015:Abnormalities, Multiple / Q000473:pathology*; D002386:Cataract; D003025:Clubfoot; D004392:Dwarfism / Q000151:congenital*; D005145:Face / Q000002:abnormalities; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly; D010009:Osteochondrodysplasias / Q000473:pathology*; D013577:Syndrome