title: Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?
abstract: We report on two sibs, a girl, and a boy, with tall stature, long, and triangular faces, prominent foreheads with high frontal hairlines, telecanthus, downward slanting of the palpebral fissures, ptosis of the eyelids, everted lower eyelids, large ears, long noses, full, and everted vermilions, highly arched and narrow palates, tooth crowding, thin and long uvulae, coloboma of the alae, hyperextensible joints, long digits, positive thumb signs, flat feet, slightly diminished muscle strength, myopia, astigmatia, inguinal hernia, and vesical diverticula. Total body X-rays showed the presence of advanced bone age in both sibs and bilateral hallux valgus in the girl. Array-CGH did not reveal any pathological CNV. Molecular analysis of FBN1, FBN2, TGFBR1, TGFBR2, and CHST14 gene was normal, and SNP linkage analysis excluded more candidate genes. Differential diagnoses and the possibility that we might be reporting on a hitherto unreported syndrome are discussed.
authors.affiliation: Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarbane@usj.edu.lb
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.forename: Nadine
authors.initials: N
authors.lastname: Hanna
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Nadine
authors.initials: N
authors.lastname: Jalkh
authors.forename: Cybel
authors.initials: C
authors.lastname: Mehawej
authors.forename: Catherine
authors.initials: C
authors.lastname: Boileau
mesh_terms: D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D006552:Hernia, Inguinal; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis*; D038901:X-Linked Intellectual Disability / Q000175:diagnosis*; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D035781:Siblings; D013577:Syndrome