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Rev Med Inst Mex Seguro Soc. 2016 Jan-Feb;54(1):106-8.

[Neuhauser syndrome: the facial dysmorphic phenotype].

[Article in Spanish; Abstract available in Spanish from the publisher]

Author information

1
Servicio de Dismorfología Pediátrica, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México. avinafie@megared.net.mx.

Abstract

in English, Spanish

Neuhauser syndrome is an extremely rare genetic disease, most cases are sporadic by spontaneous mutation, but there are cases of autosomal recessive genetic transmission; the specific cause is unknown and has no diagnostic test. The disease is clinically characterized by primary megalocornea, congenital hypotonia, mental retardation of varying degree and delayed psychomotor development. The diagnosis in childhood is usually performed by oculo-neurological criteria. The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial wide, thin elongated mouth, big and protuded ear "cup", jaw undersized (micrognathia) and abnormal posterior positioning of the mandible (retrognathia).The use of facial dysmorphism helps to delineate the phenotype and achieve the punctuation required for the diagnosis, allowing early management and prevention of complications.

KEYWORDS:

Craniofacial abnormalities; Phenotype

PMID:
26820212
[Indexed for MEDLINE]

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