Ambiguous Genitalia, Microcephaly, Seizures, Bone Malformations, and Early Death: A Distinct MCA/MR Syndrome

Unité de Génétique Médicale et Laboratoire Associé INSERM UMR_S, Université Saint-Joseph, Beirut, Lebanon.
American Journal of Medical Genetics Part A (Impact Factor: 2.16). 05/2011; 155A(5):1147-51. DOI: 10.1002/ajmg.a.33938
Source: PubMed


We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The two siblings died at 5 and 8 months, respectively. Molecular analysis indicated that SOX9, ARX, and DHCR7 genes were normal. Comparative genomic hybridization (CGH)-array analysis performed on the younger boy indicated two notable deletions, one on paternally inherited chromosome 4, and one on maternally inherited chromosome 5. The same deletions were found in a normal sister. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed.

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