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Amelia, cleft lip, and holoprosencephaly: A distinct entity
Author(s) -
Kariminejad Ariana,
Goodarzi Payman,
AsghariRoodsari Alaleh,
Kariminejad Mohamad Hasan
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32933
Subject(s) - holoprosencephaly , anatomy , medicine , embryology , congenital disease , fetus , biology , surgery , pregnancy , genetics
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. © 2009 Wiley‐Liss, Inc.