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Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?
Author(s) -
Mégarbané André,
Samaras Leila,
Chédid Rima,
Chouery Eliane,
Chrétien Dominique,
Caillaud Catherine,
AbouGhoch Joelle,
Jalkh Nadine
Publication year - 2008
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.32579
Subject(s) - medicine , hypertelorism , frontal bossing , hypotonia , palpebral fissure , brachycephaly , anatomy , dermatology , pediatrics , skull
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. © 2008 Wiley‐Liss, Inc.