A severe case of Beare-Stevenson syndrome and associated congenital deformities.
A severe case of congenital anomalies is described, with several characteristics of Beare-Stevenson syndrome, such as cutis gyrata, acanthosis nigricans, craniofacial anomalies, ear defects, enlarged umbilical stump and anogenital anomalies. He does not have craniosynostosis or clover leaf skull, which has also been described in this syndrome. This patient also shows hands and feet anomalies, absence of skin adnexa in several locations and dental anomalies, which could suggest an associated ectodermal dysplasia.
Andrews
J M
JM
Division of Plastic Surgery, Escola Paulista de Medicina, São Paulo, Brazil.
Martins
D M
DM
Ramos
R R
RR
Ferreira
L M
LM
D000015:Abnormalities, Multiple / Q000473:pathology*; D000052:Acanthosis Nigricans / Q000473:pathology; D001003:Anal Canal / Q000002:abnormalities; D004423:Ear / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D009056:Mouth Abnormalities; D012871:Skin Diseases / Q000151:congenital*; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014472:Umbilicus / Q000002:abnormalities