Lobster-claw hand: a manifestation of EEC syndrome.
نویسندگان
چکیده
The combination of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (EEC syndrome) is a rare type of congenital anomaly. It usually occurs as an autosomal-dominant trait or less commonly in a sporadic form. In this complex, multiple congenital anomaly syndrome, any of the three cardinal manifestations may present with variable expressions.
منابع مشابه
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand-split foot-ectodermal dysplasia-cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) w...
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The association of ectrodactyly (lobster claw deformity or cleft of the hands and feet) and dacrocystitis was first reported by Cockayne in 19361, It was, however, Rudiger and others2 who stressed the association of atypical ectodermal dysplasia with ectrodactyly and cleft lip and palate and suggested the name EEC -syndrome, This is a rare congenital syndrome which shows both a familial autosom...
متن کاملThe EEC syndrome and its ocular manifestations.
The EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate) is a rare disorder with autosomal dominant inheritance, variable expression, and in some families lack of penetrance. We present the findings in five cases with emphasis on the ocular findings. Lacrimal surgery was performed on three patients with good results in each case. We also report t...
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متن کاملEctrodactyly and prenatal diagnosis.
Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers. It may involve one or more digits or the full hand and even par...
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ورودعنوان ژورنال:
- Indian journal of dermatology, venereology and leprology
دوره 72 1 شماره
صفحات -
تاریخ انتشار 2006