A pair of sibs with tibial hemimelia born to phenotypically normal parents
نویسندگان
چکیده
منابع مشابه
Achondroplasia in sibs of normal parents.
A new case of recurrent achondroplasia in sibs of normal parents is reported. Two sisters and a half sister were affected. Various mechanisms can be postulated to account for unexpected recurrence of achondroplasia in the same sibship. Germinal mosaicism and unstable premutation are discussed here.
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Heterozygous COL2A1 mutations create a group of skeletal dysplasias collectively termed type II collagenopathies. Sporadic cases of type II collagenopathies are almost exclusively caused by de novo mutations. Very few cases with intrafamilial recurrence due to germinal mosaicism have been known. We report here on a family in which a severe form of skeletal dysplasia was recurrent in two sibs wh...
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Tibial hemimelia is a rare congenital lower limb deficiency presenting with a wide spectrum of associated congenital anomalies, deficiencies and duplications. Reconstructive options have been limited, and the gold standard for treatment has remained amputation with prosthetic fitting. There is now a better understanding of the genetics, etiology and pathoanatomy of tibial hemimelia. Armed with ...
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Fig. 1.Claw like deformity of both hands, right sided tibial hemimelia with hypoplastic three toed foot and a transverse cleft on planter side of left foot. Tibial hemimelia-split hand/foot syndrome (TH-SHFM) is a rare constellation of multiple congenital malformations which includes Ectrodactyly (Lobster claw deformity or Cleft hand/foot) with a wide range of phenotypes of absent tibia/tibial ...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2003
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-003-0003-9