Möbius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers.
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.
Criado
G R
GR
Unidad de Dismorfología, Hospital Infantil Universitario Virgen del Rocío, Sevilla, Spain. german@cica.es
Aytés
A P
AP
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D003241:Consanguinity; D003391:Cranial Nerves / Q000002:abnormalities* / Q000473:pathology; D005158:Facial Paralysis / Q000235:genetics*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009679:Nuclear Family; D013030:Spain; D013577:Syndrome