Autosomal dominant onychodystrophy and congenital sensorineural deafness
نویسندگان
چکیده
منابع مشابه
Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia.
OBJECTIVE A family is described which has a unique combination of autosomal dominant hypoparathyroidism and sensorineural deafness without renal dysplasia. CASE REPORT The proband was a male infant aged 1 month with episodes of seizures for 20 days. He was born at 35 weeks' gestation without asphyxia, weighing 2040 g. His initial calcium, phosphorus and percentage of tubular reabsorption of p...
متن کاملAutosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.
A family is presented with autosomal dominant progressive palmoplantar hyperkeratosis, which is invariably associated with a slowly progressive, bilateral, high frequency, sensorineural hearing loss. The family show no other ectodermal abnormality. The differential diagnosis and possible mechanisms are discussed. This family appears to represent a unique variant in the hyperkeratosis-deafness a...
متن کاملDominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
Our report clarifies the role of ATP6V1B2 in patients with deafness and onycho-osteodystrophy and confirms that a recurring ATP6V1B2 c.1516C>T [p.(Arg506*)], variant causes dominant deafness-onychodystrophy (DDOD) syndrome.
متن کاملClinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.
AIMS/BACKGROUND To characterise clinically a large kindred segregating retinitis pigmentosa and sensorineural hearing impairment in an autosomal dominant pattern and perform genetic linkage studies in this family. Extensive linkage analysis in this family had previously excluded the majority of loci shown to be involved in the aetiologies of RP, some other forms of inherited retinal degeneratio...
متن کاملDominant anonychia and onychodystrophy.
Case 1. The grandfather, II.3, born in 1889, suffers from lymphatic leukaemia and diabetes. As can be seen in Fig. 2a, the hands show complete anonychia of the thumb, the forefinger, and the middle finger, with nail-bed vestiges present as small ridges on the outer finger edges. The fourth and fifth fingers show the absence of nails in the central part, and two small atrophied nail lamellae on ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 1999
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380050109