title: Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.
abstract: 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.
authors.affiliation: Unité de Génétique Médicale et Laboratoire Associé INSERM UMR_S, Université Saint-Joseph, Beirut, Lebanon. megarbane@usj.edu.lb
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Cécile
authors.initials: C
authors.lastname: Mignon-Ravix
authors.forename: Sandra
authors.initials: S
authors.lastname: El Sabbagh
authors.forename: Sandra
authors.initials: S
authors.lastname: Corbani
authors.forename: Joelle Abou
authors.initials: JA
authors.lastname: Ghoch
authors.forename: Nadine
authors.initials: N
authors.lastname: Jalkh
authors.forename: Cybel
authors.initials: C
authors.lastname: Mehawej
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lévy
authors.forename: Laurent
authors.initials: L
authors.lastname: Villard
mesh_terms: D001483:Base Sequence; D001842:Bone and Bones / Q000002:abnormalities*; D017931:DNA Primers; D012734:Disorders of Sex Development / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000175:diagnosis*; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction; D012640:Seizures / Q000175:diagnosis*; D013577:Syndrome
chemical_list: D017931:DNA Primers