نتایج جستجو برای: symmetric syndactyly

تعداد نتایج: 81613  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1997
F R Goodman S Mundlos Y Muragaki D Donnai M L Giovannucci-Uzielli E Lapi F Majewski J McGaughran C McKeown W Reardon J Upton R M Winter B R Olsen P J Scambler

Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in the syndactylous web, but incomplete penetrance and variable expressivity are common. The condition has recently been shown to be caused by expansions of an imperfect trinucleotide repeat sequence encoding a 15-residue polyalanine tract in...

2015
Moon-Yeon Oh Jun Suk Kim Ja Hye Kim Ja Hyang Cho Beom Hee Lee Gu-Hwan Kim Jin-Ho Choi Han-Wook Yoo

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facia...

Journal: :Annales Academiae Medicae Stetinensis 2008
Aleksandra Gawlikowska-Sroka

Polydactyly is a common hereditary disorder in which extra or vestigial digits are present on the one or both sides of the extremities. It is ten times more frequent in Blacks than in Whites. Polydactyly occurs both in a sporadic form and in a hereditary form. In polydactyly type A, the extra digits contains phalanges, in polydactyly type B, there is no skeletal structure. The extra digit is ma...

Journal: :Journal of medical genetics 1996
A J Green R N Sandford B C Davison

We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistu...

Journal: :Journal of medical genetics 1976
Y Naveh A Friedman

A 5-year-old boy and his father with Pfeiffer syndrome are described. They had acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional upper canine, high-arched palate, partial syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular gr...

Journal: :National Journal of Clinical Anatomy 2015

Journal: :International Journal of Cardiovascular Sciences 2021

Abstract Timothy Syndrome is a rare autosomal dominant multisystem genetic condition. The CACNA1C gene, codifier of the CaV1.2 calcium channel, affected, resulting in loss voltage-dependent channel inactivation. Relevant clinical characteristics: (1) corrected QT interval greater than 480ms; (2) syndactyly. Death often occurs during childhood, and results from ventricular tachyarrhythmias. This...

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