Pre- and postnatal growth retardation--severe mental retardation--acral limb deficiencies with poorly keratinized nails. Another example of a distinct syndrome of inherited intrauterine dwarfism?
In this report, we further delineate an autosomal recessive syndrome with prenatal growth retardation, severe postnatal growth failure, profound mental and motor retardation, characteristic face and acral limb deficiencies with poorly keratinized nails and hypoplastic distal phalanges.
Cartwright
J
J
Department of Paediatrics, Johanesburg Hospital, Parktown, South Africa.
Nelson
M
M
Fryns
J P
JP
D002657:Child Development; D002675:Child, Preschool; D004392:Dwarfism / Q000175:diagnosis*; D005147:Facial Bones / Q000002:abnormalities; D005317:Fetal Growth Retardation; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009264:Nails, Malformed; D011859:Radiography; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities