Ectrodactyly or Lobster Claw Syndrome ,
نویسنده
چکیده
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form We report a case of autosomal dominant inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation. keywords: autosomal dominant,split hand/split foot malformation,syndactyly
منابع مشابه
Lobster-claw hand: a manifestation of EEC syndrome.
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.
متن کاملEctrodactyly, 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...
متن کاملEctrodactyly in a Mix Breed Dog
Case Description- A 3-month-old, female mixed breed dog was presented to the Veterinary Teaching Hospital of Ferdowsi University with an obvious deformity in its right forelimb. Clinical Findings- - In clinical examination, there was a separation from elbow joint to the end of digits and a long skin cleft between these separated regions was seen. Radiographic examination revealed a wide space b...
متن کاملEEC syndrome with urogenital anomalies and compound naevus.
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 کاملMedical Mystery: Ectrodactyly a Case Report
Address for Correspondence: Dr. Subhra Mandal, M.B.B.S., M.D. (Anatomy), Associate Professor, Dept. of Anatomy, Medical College, Kolkata, West Bengal, India. Contact No.: +919477458100 E-Mail: [email protected] Access this Article online Quick Response code Web site: *1Associate Professor, Dept. of Anatomy, Medical College, Kolkata, West Bengal, India. 2Post Graduate Resident in DNB ( PMR...
متن کامل