Alternative titles; symbolsDEVELOPMENTAL DELAY, DYSMORPHIC FACIAL FEATURES, NEONATAL SPONTANEOUS FRACTURES, WRINKLED SKIN, AND HEPATIC FAILURE▼ Clinical Features...
Alternative titles; symbols
▼ Clinical Features
Megarbane et al. (2008) reported 2 Lebanese sibs, offspring of consanguineous parents, with a syndrome consisting of axial hypotonia, developmental delay, dysmorphic facial features (frontal bossing, prominent eyes, slightly downslanting palpebral fissures, hypertelorism, telecanthus, long eyelashes, gum hypertrophy, and pointed chin), short neck, wrinkled skin, abnormal thoracic configuration, hepatosplenomegaly, liver dysfunction, and neonatal spontaneous fractures. Hepatic function, as well as their overall health, deteriorated whenever they had fever. Laboratory tests revealed no other anomalies. The older sib died from liver failure when he was 18 months old. His sister was 15 months old at the time of report.
Megarbane et al. (2008) suggested autosomal recessive inheritance of this disorder based on its occurrence in sibs of healthy, consanguinity parents.