Möbius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers

1999 
Two brothers born to a healthy, consanguineous Spanish couple have a syndrome of Mobius sequence with involvement of cranial nerves V, VI, VII, IX, and XII, central nervous system malformations; characteristic face with creased earlobes, short philthrum, and a short, arched upper lip, skeletal anomalies with short sternum and delayed bone maturation, hypogenitalism, and profound mental retardation. We suggest that this is a new multiple congenital anomalies condition and mental retardation (MCA/MR) syndrome with autosomic recessive inheritance. Am. J. Med. Genet. 86:492–496, 1999. © 1999 Wiley-Liss, Inc.
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