Type of Article : Case Report
Year: 2015 | Volume 3 | Issue 1 | Page No. 845-847
Date of Publication: 31-01-2015
MEDICAL MYSTERY: ECTRODACTYLY A CASE REPORT
Subhra Mandal *1, Prabir Mandal 2, Panchanan Kundu 3.
*1 Associate Professor, Dept. of Anatomy, Medical College, Kolkata, West Bengal, India.
2 Post Graduate Resident in DNB ( PMR ), S.N.P. Hospital , Kolkata , West Bengal, India.
3 Professor & MSVP, Bankura Sammillani Medical College, West Bengal, India.
Address: 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: firstname.lastname@example.org
Congenital absence of all or part of one or more fingers or toes is defined as Ectrodactyly. It is the word derived from Greek ektroma meaning “abortion” and dactyly meaning digits. Also called split hand or foot malformation (SHFM), Ectrodactyly is a rare limb malformation with median cleft of hand and foot and aplasia or hypoplasia of the phalanges, metacarpals and metatarsals. Irregular pattern of inheritance exists for ectrodactyly; may be autosomal dominant, autosomal recessive or X linked. In this condition, the median cleft of the hand gives the hand, the appearance of lobster claws- so also called ‘Lobster Claw Hand”. Ectrodactyly may be very commonly associated with other anomalies of face, eyes and skeletal system. We report a rare case of unilateral ectrodactyly of right hand .The present case is not associated with any other anomaly as described in various textbooks and reference articles. The details of etiology, diagnosis, genetic causes, association with other anomalies and treatment will be discussed.
KEYWORDS: Ectrodactyly, Split hand or foot malformations, Median Cleft, Autosomal dominant, Autosomal recessive.
- Preus.M, Fraser F C. The lobster claw defect,cleft lip/palate and renal anomalies. Clin. Genet. 1973;4:369-375. PubMed ID: 4800520
- Neugebauer H, J Karsch. “Split hand and foot with familial occurrence.” (In German) Zeitschrift fur Orthopadie und ihre Grenzgebiete 95:500-6. PMID 14479171.
- The EEC Syndrome: a literature study. Clin. Dysmorph. 1996;5:115-127.
- Arbus J. And et al: Typical isolated ectrodactyly of hands and feet: early antenatal diagnosis .Journal of maternal fetal neonatal medicine. 2005;17:299-01.
- Moore Keith L , Persaud T V N. The developing human : clinically oriented embryology, chapter-17, The limbs, 7th edition, SAUNDERS First Indian reprint 2003;410-23.
- Takeuchi J k et al, Tbx5 and Tbx4 genes determine the wing/ leg identity of limb buds. Nature 1999 April 29; 398 (6730):810-4.
- Swanson A.B.A .classification for congenital limb malformations . J Hand Surgeries.1976.1:8-22.
- Duijf Pascal H.G et al : Pathogenesis of split hand /split foot malformation, Human Molecular Genetics, Oxford Journal, 2003, vol-12 review issue, oxford university press pp 51 -60.
- Zlotogora J. On the inheritance of the split hand/split foot malformation.Am J Med Genet.1994 Oct 15;53(1):29-32.
- Geetanjali Jindal, Veena R,Parmar and Vipul Kumar Gupta. Dept of paediatrics, Govt Med College, sector 32, Chandigarh. Indian Journal of Human Genetics.2009 Sept-Dec; 15(3);140-142.
- Split foot deformity inherited as an autosomal recessive trait. Clin Genet. 1976;9;8-14.
Subhra Mandal, Prabir Mandal, Panchanan Kundu. AMEDICAL MYSTERY: ECTRODACTYLY A CASE REPORT. Int J Anat Res 2015;3(1):845-847. DOI: 10.16965/ijar.2015.101