Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome.

摘要

We report here the rare case of a 3-day-old girl with nail-patella syndrome presenting concomitantly with omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex and a history of exposure to cocaine during the first five months of pregnancy. The mother did not specify the frequency or amount of the drug. At physical examination, the infant presented down-slanting palpebral fissures; low-set and posterior rotated ears with an overfolding of the helices; left hand with an ulnar deviation and absence of palmar creases, clinodactyly of the fifth finger and hypoplastic thumb with proximal implantation; right hand with single palmar crease; lack of dorsal and distal creases of some fingers on both hands; hypoplastic nails on feet and hands; omphalocele; cloacal exstrophy with undefined genitalia, imperforate anus; loose coxofemoral joints and bilateral clubfoot.