Aviña-Fierro JA, Hernández-Aviña DA

Language: Spanish
References: 10
Page: 106-108
PDF size: 410.71 Kb.

ABSTRACT

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.

REFERENCES

1. Neuhauser G, Kaveggia EG, France TD, Opitz JM. Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited. Z Kinderheilkd. 1975;120:1-18.

2. Raas-Rothschild A, Berkenstadt M, Goodman RM. Megalocornea and mental retardation syndrome. Am J Med Genet. 1988;29:221-36.

3. Gutiérrez ABE, Juárez VCI, Orozco CR, Arnaud L, Macías GNM, Barros NP. Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation. Genet Couns. 2013;24:185-91.

4. Verloes A, Journel H, Elmer C, Misson JP, Le Merrer M, Kaplan J, et al. Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types. Am J Med Genet. 1993;46:132-7.

5. Yarar C, Yakut A, Yildirim N, Yildiz B, Basmak H. Neuhauser syndrome and Peters’ anomaly. Clin Dysmorphol. 2006;15:249-51.

6. Aviña Fierro JA, Hernández Aviña DA. Síndrome de Neuhauser: megalocórnea, retardo mental e hipotonía. Bol Med Hosp Infan Mex. 2008;65:135-7.

7. Hall BD, Graham JM, Cassidy SB, Opitz JM. Elements of Morphology: standar terminology for periorbital region. Am J med Genet A. 2009;149A:29-39.

8. Allanson JE, Cunniff C, Hoyme HE, McGraughran J, Mueke M, Neri G. Elements of Morphology: standar terminology for the head and face. Am J med Genet A. 2009;149A:6-28.

9. Konradsen TR, Zetterström C. A descriptive study of ocular characteristics in Marfan syndrome. Acta Ophthalmol. 2013;91:751-5.

10. Barisic I, Ligutic I. Megalocornea-mental retardation syndrome: report of a new case. Journal of Medical Genetics. 1996;33:882-3.