Bosma Arhinia Microphthalmia Syndrome

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منابع مشابه

Congenital arhinia.

In a case of congenital absence of the nose, spiral axial CT showed a tiny piriform anterior aperture on the right that ended blindly. Three-dimensional reformation of CT data showed an atretic bony plate, blind-ending right nostril, absent nasal bones, and inferior continuation of the metopic suture. Noncontrast MR findings in the brain were normal.

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A case of Lenz microphthalmia syndrome.

Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dila...

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Attached is a description of a visit I made to the SMA testing site and the panel manufacturer, Bosma corporation. Visit to the testing site for the SMA array

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Congenital arhinia: A rare case

Congenital arhinia or absence of nose is a rare condition with only 30 cases reported so far. We report a rare case and briefly review the literature.

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Congenital Arhinia: A Rare Case

PATIENT Male, 4 months FINAL DIAGNOSIS Congenital arhynia Symptoms: Absence of the nose Medication: - Clinical Procedure: - Specialty: Pediatrics and Noenatology • Genetics. OBJECTIVE Congenital defects. BACKGROUND Congenital nasal absence (arhinia) is an extremely rare malformation. Arhinia causes severe airway obstruction and poor feeding in the affected neonate. There is an association...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 1999

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-199904020-00442