Clinical variability in acro-cardio-facial-syndrome.
We report on a 25-year-old man with ectrodactyly and genital anomalies whose parents are first cousins. Their second child died 4 days after birth with severe limb defects and imperforate anus. Our patient may represent clinical variability of the acro-cardio-facial syndrome.
Kariminejad
Ariana
A
Kariminejad & Najmabadi Genetic and Pathology Center, Tehran, Iran. arianakariminejad@yahoo.com
Bozorgmehr
Bita
B
Sedighi Gilani
Mohammad Ali
MA
Almadani
Navid
N
Kariminejad
Mohamad Hasan
MH
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001006:Anus, Imperforate / Q000235:genetics; D002871:Chromosome Banding; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome