Results 371 to 380 of about 1,639,589 (408)

Autosomal dominant microcephaly

The Journal of Pediatrics, 1983
Haslam in his reply to a letter presenting a new family with autosomal dominant microcephaly, affirms that the number of patients with this anomaly is increasing and suggests caution in making the diagnosis. The autosomal dominant chorioretinal dysplasia - microcephaly-mental retardation syndrome, which has variability of expression, must also be ...
Tenconi R, CLEMENTI, MAURIZIO, Audino G.
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Autosomal dominant microtia

European Journal of Medical Genetics, 2010
Microtia (MIM600674) is a congenital malformation which occurs in 1/8000-10000 births. It is characterized by a small, and abnormally shaped pinna. It ranges in severity from a bump of tissue to a partially formed ear cup. Microtia is often associated with atresia of the external auditory canal.
L. Rifai, S. Chafai Elalaoui, I. Cherkaoui Jaouad, Abdelaziz Sefiani   +3 more
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Autosomal dominant spastic paraplegias

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2021
To estimate the proportion and spectrum of infrequent autosomal dominant spastic paraplegias in a group of families with DNA-confirmed diagnosis and to investigate their molecular and clinical characteristics.Ten families with 6 AD-SPG: SPG6 (n=1), SPG8 (n=2), SPG9A (n=1), SPG12 (n=1), SPG17 (n=3), SPG31 (n=2) were studied using clinical, genealogical,
G. E. Rudenskaya, O.L. Mironovich, L. A. Bessonova, F. A. Konovalov, S. A. Kurbatov, V A Kadnikova, Peter Sparber, O. P. Ryzhkova   +7 more
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Autosomal-dominant primary immunodeficiencies

Current Opinion in Hematology, 2005
The vast majority of known primary immunodeficiencies (PIDs) are autosomal or X-linked recessive Mendelian traits. Only four classical primary immunodeficiencies are thought to be autosomal-dominant, three of which still lack a well-defined genetic etiology: isolated congenital asplenia, isolated chronic mucocutaneous candidiasis, and hyper IgE ...
Lawrence, Tatiana, Puel, Anne, Reichenbach, Janine, Ku, Cheng-Lung, Chapgier, Ariane, Renner, Ellen, Minard-Colin, Véronique, Ouachée, Marie, Casanova, Jean-Laurent   +8 more
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Autosomal Dominant Cramping Disease [PDF]

Archives of Neurology, 1990
A family was studied in which four generations (16 of 41 members) suffered from painful recurrent muscle cramping. A clear pattern of autosomal dominant inheritance was noted. The cramping first developed during adolescence or early adulthood. Electromyographic analysis indicated a neurogenic origin.
Kenneth Ricker, Richard T. Moxley
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Autosomal dominant transmission of acrodysostosis

Clinical Dysmorphology, 1992
A mother and daughter with acrodysostosis are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of acrodysostosis. The daughter exhibited many features of acrodysostosis by two months of age, demonstrating that acrodysostosis may be diagnosed in infancy.
Robert D. Steiner, R A Pagon
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Osteomesopyknosis: An autosomal dominant osteosclerosis

American Journal of Medical Genetics, 1981
AbstractRadiographs of a 27‐year‐old sterile woman showed increased bone density. The lesions were localized to the spine and pelvis. The condition is inherited as an autosomal dominant trait and has been designated osteomesopyknosis.
Dominique Collin, Claude Stoll, Jean Dreyfus, John M. Opitz   +3 more
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Autosomal dominant inheritance of spondyloenchondrodysplasia

American Journal of Medical Genetics Part A, 2005
AbstractSpondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. A mother and son are reported with typical features of spondyloenchondrodysplasia. Their similar radiographic and MRI findings are presented. The radiologic appearance of the spine changed over
R. Bhargava, Norma Leonard, J. Spranger, A.K.J. Chan   +3 more
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Autosomal dominant ichthyosis exfoliativa

British Journal of Dermatology, 1991
An unusual ichthyosiform dermatosis with circumscribed areas of blistering hyperkeratoses as well as scaly areas was observed in five consecutive generations of a German family. Light and electron microscopical studies revealed oedema of the keratinocytes in the upper epidermis but no defects of tonofilaments and keratohyalin granules.
G. Kolde, F. Vakilzadeh
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Autosomal dominant holocalvarial craniosynostosis

Child's Nervous System, 1995
Isolated holocalvarial synostosis with normal intelligence is described in two pairs of sibs from one kindred. Diagnosis was delayed until the age of 5 years in the pro-band. The gene carriers were asymptomatic and had no head deformity. The genetic pattern is consistent with autosomal dominant inheritance.
Ruth Gershoni-Baruch, Menashe Zaaroor, Giora Pillar   +2 more
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