Ablepharon-Macrostomia Syndrome: Case report

Authors

  • Miguel Chavez Pastor
  • A. Zea
  • G. Córdova
  • E. Bambarén

DOI:

https://doi.org/10.61651/rped.2012v65n2p89-93

Keywords:

Macrostomia, Ichthyosis, Disorders of Sex Development

Abstract

A neonate case is described with abscent eyebrows and eyelids, cloudy corneae, telecantus, nistagmus, macrostomia, thin lips, neonatal teeth, hypoplasic alae nasi, wide nose, flat nasal bridge, left ear helix anomalies, alopecia totals, lamellar ichthiosis, loose skin, hypoplasic nipples, ambiguous genitalia and cryptorquid testes. It was diagnosed Ablepharon-Macrostomia Syndrome which is a rare syndrome reported in the literature. This is the first case reported in Peru. There are other similar syndromes as Syndrome Ablepharon Ichthyosis, Keratitis-Ichthyosis-Deafness (KID) MIM 148210 and Barber Say syndrome MIM 209885.

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Author Biographies

Miguel Chavez Pastor

Profesor Asociado, Departamento de Ciencias Morfológicas, FMAH, UPCH. Responsable SUA Genética UPCH. Lima, Perú.

Asistente Servicio de Genética Instituto Nacional de Salud del Niño. Lima, Perú.

A. Zea

Médico Cirujano.

G. Córdova

Médico Cirujano.

E. Bambarén

Profesor Auxiliar, Departamento de Pediatría, FMAH, UPCH. Lima, Perú.

Asistente, Servicio de Neonatología, Hospital Nacional Cayetano Heredia. Lima, Perú.

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Published

2012-12-31

How to Cite

1.
Chavez Pastor M, Zea A, Córdova G, Bambarén E. Ablepharon-Macrostomia Syndrome: Case report. Rev Peru Pediatr [Internet]. 2012 Dec. 31 [cited 2024 Nov. 23];65(2):89-93. Available from: https://pediatria.pe/index.php/pedperu/article/view/453

Issue

Vol. 65 Num. 2 (2012)

Section

CLINICAL CASE

Categories

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