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Updated: Jul 5, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder
Abstract:
Three male sibs from consanguienous parents were found to have a strikingly similar pattern of multiple congenital anomalies. The main features were polyhydramnios; low birthweight; dwarfism; epicanthal folds; abnormal ears; microretrognathia; microstomia; microglossia; glossoptosis; webbed neck; severe cardiac defects; radial and ulnar hypoplasia; radial deviation of the hands; brachymetacarpalia; thumb hypoplasia; clinodactyly and hypoplasia of the 5th finger; simian creases; fibular and tibial hypoplasia; talipes varus with hypoplastic heels; wide gap between 1st and 2nd toes; and delayed bone age. Neonatal death occurred in the 3 babies by severe cardiac failure. Differential diagnosis permits one to conclude that this is a new type of faciocardiomelic dysplasia with a probable autosomal recessive inheritance.
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