Familial microtia with meatal atresia in two sibships.
نویسندگان
چکیده
منابع مشابه
Familial microtia with meatal atresia in two sibships.
Hereditary malformations of the external ear, such as microtia and auditory meatal atresia, unassociated with other congenital defects or syndromes, are rarely reported in the medical literature. McKenzie (1958) described such deformities of the external ear as one of the phenotypic variations within the category of a 'first arch syndrome' caused by a dominant gene with variable pentrance. Comp...
متن کاملMicrotia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship.
Hereditary malformations of the external ear, such as microtia and meatal atresia, not associated with other congenital defects or syndromes, are rarely reported. Only a few familial cases have been described in which both dominant and recessive inheritance has been suggested. We report a sibship in which a wide variation of expression is present and recessive inheritance can be postulated.
متن کاملFamilial Duodenal Atresia
Anderson, C. M. (1960). Histological changes in the duodenal mucosa in coeliac disease: reversibility during treatment with a wheat gluten free diet. Archives of Disease in Childhood, 35, 419. Dyer, N. H. and Verbov, J. (1968). Malabsorption and the skin (correspondence). British Medical Journal, 4, 455. Fraser, N. G., Ferguson, A., and Murray, D. (1968). Dermatitis herpetiformis in two patient...
متن کاملBilateral microtia, canal atresia and aplasia of cochleovestibular nerve.
A six-month-old baby with congenital patent ductus arteriosus (PDA), bilateral microtia and canal atresia was referred for hearing assessment. The audiology assessment revealed bilateral profound hearing loss, which is atypical for a case of pure canal atresia. Imaging was performed much earlier than usual and, as suspected, the patient also had bilateral severe inner ear anomaly. It is extreme...
متن کاملManagement of hearing loss and the normal ear in cases of unilateral Microtia with aural atresia.
OBJECTIVES/HYPOTHESIS To identify the rate of hearing loss related to middle ear disease and the frequency of tympanostomy tube (TT) insertion in the contralateral ear of patients with unilateral microtia/aural atresia. STUDY DESIGN Retrospective case series of patients less than 3 years of age with unilateral microtia/aural atresia treated at an urban, tertiary care children's hospital from ...
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 Medical Genetics
سال: 1968
ISSN: 1468-6244
DOI: 10.1136/jmg.5.4.289