Waardenburg syndrome and myelomeningocele in a family.
نویسندگان
چکیده
We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.
منابع مشابه
Waardenburg Syndrome in an Arab Family
By Laman Amin -ZaKI (Baghdad), The Journal of Laryngology and Otology, 1971.
متن کاملگزارش یک مورد سندروم واردنبرگنوع دو (گزارش مورد)
Waardenburg syndrome (WS) is a rare disease characterized by sensor neural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. WS is caused by mutations in the microphthalmia-associated with transcription factor gene. This case is a 10 month old infant girl in which during a routine physical examination found that she has hetetrochromia and unilate...
متن کاملA Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients
Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and considerable clinical and genetic heterogeneity. WS type II is the most common type of WS in many populations presenting with sensorineural hearing impairment, heterochromia iridis, hypoplastic blue eye, and pigmentary abnormalities of the hair and skin. To date, mutations of MITF, SOX10, and SNA...
متن کاملWaardenburg Syndrome: Description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c...
متن کاملA novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1
PURPOSE Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). METHODS WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic eva...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 30 1 شماره
صفحات -
تاریخ انتشار 1993