Mesomelic limb shortness: a previously unreported autosomal recessive type.
We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.
Reardon
W
W
Department of Paediatric Genetics, Hospitals for Sick Children, London, United Kingdom.
Hall
C M
CM
Slaney
S
S
Huson
S M
SM
Connell
J
J
al-Hilaly
N
N
Fixsen
J
J
Baraitser
M
M
Winter
R M
RM
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics; D003241:Consanguinity; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D008334:Mandible / Q000002:abnormalities; D013577:Syndrome