title: Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?
abstract: We report on a consanguineous Lebanese family where two sibs had an axial hypotonia, developmental delay, hirsutism, large fontanels with delayed closure, and dysmorphic facial features that consist of frontal bossing, prominent eyes, slightly down-slanting palpebral fissures, hypertelorism, telecanthus, long eyelashes, gum hypertrophy, and pointed chin. In addition, they had short neck, abnormal thoracic configuration, wrinkled skin on the hands and abdomen, hepato-splenomegaly and neonatal spontaneous fractures. Their overall health and hepatic function deteriorated every time they had fever. The eldest boy died at the age of 18 months secondary to a hepatic failure. Laboratory exams did not reveal any anomaly except for the hepatic function. Differential diagnoses are discussed and the possibility that we might be reporting on a new metabolic syndrome is raised.
authors.affiliation: Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon. megarbane@usj.edu.lb
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.forename: Leila
authors.initials: L
authors.lastname: Samaras
authors.forename: Rima
authors.initials: R
authors.lastname: Chédid
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Dominique
authors.initials: D
authors.lastname: Chrétien
authors.forename: Catherine
authors.initials: C
authors.lastname: Caillaud
authors.forename: Joelle
authors.initials: J
authors.lastname: Abou-Ghoch
authors.forename: Nadine
authors.initials: N
authors.lastname: Jalkh
mesh_terms: D000328:Adult; D002658:Developmental Disabilities / Q000150:complications*; D005260:Female; D005598:Fractures, Spontaneous / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017093:Liver Failure / Q000150:complications*; D008297:Male; D011859:Radiography; D015595:Skin Aging / Q000473:pathology*; D013577:Syndrome