A distinct skeletal dysplasia in an infant from consanguineous parents.
An infant with a distinct set of skeletal anomalies was studied. The patient's main phenotypic features were short-limb dwarfism, craniofacial disproportion with prominent forehead, short neck and trunk with pectus carinatum, and platyspondyly, protuberant abdomen, acromesomelic shortness of limbs, bilateral palm simian crease, short feet with brachydactyly of the 2nd toe, and prominent heels. Differential diagnosis suggests that the case described had a previously unrecognized skeletal dysplasia. The fact that the parents were first cousins suggests a genetic, probably autosomal recessive etiology.
D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000151:congenital; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D017880:Limb Deformities, Congenital; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities