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Boletín Médico del Hospital Infantil de México

2008, Number 2

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Bol Med Hosp Infant Mex 2008; 65 (2)

Neuhauser syndrome: megalocornea, mental retardation and hypotonia

Aviña-Fierro JA, Hernández-Aviña DA

Language: Spanish
References: 9
Page: 135-137
PDF size: 132.88 Kb.


ABSTRACT

Introduction. Neuhauser syndrome is an extremely rare genetic recessive disorder characterized by megalocornea, mental and motor retardation and hypotonia. Nowadays, this syndrome has been clinically delineated but its genetic mechanism remains unknown, and there is no specific diagnostic test.
Case report. An 18-month old female infant with characteristic facial dysmorphic traits; congenital glaucoma, megalocornea in both eyes and hypotonia; seizures, mental and motor retardation. Dysmorphologic evaluation allowed the clinical diagnosis.
Conclusion. There are only 36 cases reported in the literature. This case is the first published in Latin America, and may be helpful in the clinical assessment of patients with megalocornea, mental and motor retardation and hypotonia.


REFERENCES

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