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Dergiler / GORM:Gynecology Obstetrics & Reproductive Medicine / 2004 / Cilt: 10 - Sayı: 1

A rare form of Neu-Laxova Syndrome: A case peport

Kader ERYAVUZ
Ali ÇELİK
Seyhan ÖZCAN
Ahmet ERK
Ekrem ÖZAKIN
Sayfa
60–61
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

The current syndrome also is associated with brain underdevelopment (microcephaly, lissencephaly, absence of the corpus callosum and cerebrum).

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Neu-Laxova is a rare congenital abnormality involving multiple organs.
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Temel Bulgular & Veri:The syndrome was first described by Neu et all in 1971.
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Sonuç & Katkı:The current syndrome also is associated with brain underdevelopment (microcephaly, lissencephaly, absence of the corpus callosum and cerebrum).
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Korpus kallosum · Mikrosefali · Anoftalmi

Abstract

Neu-Laxova is a rare congenital abnormality involving multiple organs. The syndrome was first described by Neu et all in 1971. Since than more than 40 case have been reported. We report a case with anophtalmia which is rare. The specific ophtalmic feature of this syndrome is exophtalmic eyes with absend eyelids. This syndrome has an autosomal recessive inheritance. Anophtalmia in this case may be primary and hereditary. Because according the parents, one of their daughters had anophtalmos and one of the mother's brother had congenital blindness. Anophtalmia also can be secondary, associated with underdevelopment of the forebrain. The current syndrome also is associated with brain underdevelopment (microcephaly, lissencephaly, absence of the corpus callosum and cerebrum).

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Bu Makaleye Atıf Yap

ERYAVUZ, K., ÇELİK, A., ÖZCAN, S., ERK, A., ÖZAKIN, E. (2004). A rare form of Neu-Laxova Syndrome: A case peport. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 10 - Sayı: 1, 60–61. https://ajindex.com/articles/227157

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Kaynakça (9)

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  2. Laxova R, Ohara PT, Timothy JAD. A further example of a lethal autosomal recessive condition in sibs. J Ment Defic Res 1972; 16:139-43
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