Results 301 to 310 of about 308,350 (333)

Autosomal Dominant Osteopetrosis

Clinical Orthopaedics and Related Research, 1993
Autosomal dominant osteopetrosis is radiographically characterized by universal osteosclerosis, primarily involving the axial skeleton, and by symmetrical affections of the long bones without modeling defects. Based on standard radiographs, it is possible to describe two different subtypes with different clinical, biochemical, and histologic ...
J, Bollerslev, L, Mosekilde
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Autosomal dominant microcephaly

The Journal of Pediatrics, 1979
Four families with autosomal dominant microcephaly are reported. Although the phenotype is nondistinctive, several patients had receding or small foreheads, upslanted palpebral fissures, or prominent ears. The degree of intellectual dysfunction is not as severe as that recorded in autosomal recessive microcephaly.
R H, Haslam, D W, Smith
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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.
S, Chafai Elalaoui, I, Cherkaoui Jaouad, L, Rifai, A, Sefiani   +3 more
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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 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, V A, Kadnikova, L A, Bessonova, P A, Sparber, S A, Kurbatov, O L, Mironovich, F A, Konovalov, O P, Ryzhkova   +7 more
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AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY

Retina, 1997
Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretinal atrophy and areas of hypopigmentation and hyperpigmentation between the equator and the ora serrata circumferentially in the ocular fundus.
J, Roider, E, Fritsch, H, Hoerauf, W, Heide, H, Laqua   +4 more
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Autosomal dominant erythromelalgia

American Journal of Medical Genetics, 1992
AbstractWe present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature.
W H, Finley, J R, Lindsey, J D, Fine, G A, Dixon, M K, Burbank   +4 more
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Autosomal Dominant Ménétrier‐like Disease

Journal of Pediatric Gastroenterology and Nutrition, 2012
ABSTRACTBackground:Familial occurrence of Ménétrier disease is rare and has been reported only in few instances.Methods:Affected patients from a large pedigree were evaluated at the clinical, endoscopic, and pathological levels.Results:Affected members presented with gastropathy of variable severity but without protein loss.
Stisciuglio, C, Corleto, Vd, Brunetti Pierri, N, Rindi, Guido, Piccolo, P, Sangermano, R, Martini, Maurizio, D'Armiento, Fp, Staiano, A, Miele, E.   +9 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.
F, Vakilzadeh, G, Kolde
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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.
G, Pillar, M, Zaaroor, R, Gershoni-Baruch   +2 more
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