Amelia, cleft lip, and holoprosencephaly: a distinct entity.
We report on a male fetus with amelia, cleft lip, and holoprosencephaly. We compare the clinical findings in our patient with those of previously reported cases with the most clinical overlap. To date only four cases with bilateral limb amelia, CNS anomalies, and facial clefts have been described. Our report appears to represent the fifth case with such a combination of anomalies.
Kariminejad
Ariana
A
Kariminejad-Najmabadi Pathology and Genetics Center, 1143 Med Bldg Sanat Sq Shahrak Gharb, P.O. BOX 14667/154, Tehran, Iran. arianakariminejad@yahoo.com
Goodarzi
Payman
P
Asghari-Roodsari
Alaleh
A
Kariminejad
Mohamad Hasan
MH
D000328:Adult; D002971:Cleft Lip / Q000150:complications*; D004480:Ectromelia / Q000150:complications*; D005260:Female; D005333:Fetus / Q000002:abnormalities; D005865:Gestational Age; D016142:Holoprosencephaly / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male