Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder
Cantú, J.M.; Hernández, A.; Ramírez, J.; Bernal, M.; Rubio, G.; Urrusti, J.; Franco-Vázquez, S.
Birth Defects Original Article Series 11(5): 91-98
1975
ISSN/ISBN: 0547-6844 PMID: 1218241 Document Number: 91437
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.