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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866 EISSN: 1998-362x
Vol. 14, Num. 1, 2008, pp. 29-30

Indian Journal of Human Genetics, Vol. 14, No. 1, January-April, 2008, pp. 29-30

Letter to the Editor

Radial aplasia with oligodactyly

Panigrahi Inusha, Kulkarni KetanPrasad

Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Center, PGIMER, Chandigarh
Correspondence Address:Genetic and Metabolic Unit, Advanced Pediatric Center, PGIMER, Sec-12, Chandigarh
ketanpkulkarni@gmail.com

Code Number: hg08008

Sir,

A 15-month-old female child presented with bilateral upper limb deformity. She was born of a non-consanguineous marriage between a 23-year-old mother and 25-year-old father and was delivered by a normal vaginal delivery at 39 weeks of gestation. There was no history of drug intake in early gestation or of antenatal radiation exposure. On examination, there was mesomelic shortening of the forearms, skin dimpling, and oligodactyly, with absence of movement at the elbows [Figure - 1] and [Figure 2a]. There were no other dysmorphic features, and the child was developmentally and neurologically normal. The platelet count was 274.0 x 10 9 /L. The skiagram of upper limbs revealed humeroulnar fusion, ulnar campomelia, absent radius, and oligodactyly [Figure 2b].

Radial aplasia with oligodactyly has been described in the Al-Awadi / Rothschild syndrome / Schinzel phocomelia syndrome which has a wide clinical spectrum. [1] However, humeroradial and humeroulnar synostosis has been described only in the Schinzel phocomelia spectrum of disorders. [2] Hence, our patient is either a variant of this syndrome or an entirely new entity. Mutations in WNT7A, HOXD13, and GLI3 genes have been described in the genesis of such limb malformations. [3] In view of the clinical variability in the presentation of such complex limb reduction defects, their varied prognosis, and the need for multidisciplinary management, it is essential to provide appropriate genetic counseling. Antenatal diagnosis can be offered to the families in selected situations.

References

1.Online Mendelian Inheritance in Man. OMIM (TM). Mckusick-Nathans Institute for Genetic Medicine, John Hopkins University (Baltimore, MD) and National Center for Biotechnology Information. Bethesda, MD: National Library of Medicine; accessed June 2008.   Back to cited text no. 1    
2.Musa AA. Humeroulnar synostosis: Case report. East Afr Med J 2004;81:492.  Back to cited text no. 2  [PUBMED]  
3.Woods CG, Stricker S, Seeman P, Stern R, Cox J, Sherridan E. Mutations in WNT7A cause a range of limb malformations, including fuhrmann syndrome and Al-Awadi-Raas-rothschild-Schinzel Phocomelia Syndrome. Am J Med Genet 2006;79:402-8.  Back to cited text no. 3    

Copyright 2008 - Indian Journal of Human Genetics

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[hg08008f2b.jpg] [hg08008f2a.jpg] [hg08008f1.jpg]
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