A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.
نویسندگان
چکیده
منابع مشابه
گزارش 1 مورد Cutis Laxa همراه با دررفتگی دو طرفه مفصل ران
ABSTRACT Cutis laxa is a congenital disorder transmitted as autosomal ressesive and dominate trait. This disorder has an acquired form that develops after febrile illness or skin inflammatory fisease. A 5 month old girl with generalized loose skin and these facial features including a hooked nose with everted nosetrils, long filtrom, high arch palate, wide fontanels, hypertelorism, e...
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Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogen...
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The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a v...
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Characteristics suggestive of connective tissue dysfunction have been described in Sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. A variety of cutis laxa syndromes have also been described, some of them exhibiting mental retardation, but no reports have drawn an association with overgrowth or abnormal facies characteristic of Sotos syndrome. We report...
متن کاملSplit hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, inclu...
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عنوان ژورنال:
- Journal of medical genetics
دوره 41 6 شماره
صفحات -
تاریخ انتشار 2004