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  • Title: Möbius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers.
    Author: Criado GR, Aytés AP.
    Journal: Am J Med Genet; 1999 Oct 29; 86(5):492-6. PubMed ID: 10508994.
    Abstract:
    Two brothers born to a healthy, consanguineous Spanish couple have a syndrome of Möbius 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.
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