Femoral Hypoplasia Unusual Facies Syndrome: A Rare Case Report

Sharmila V and Anuradha D .

Abstract


Femoral hypoplasia unusual facies syndrome is a rare form of congenital abnormality characterised by femoral abnormalities and characteristic distinct facial features. Incidence 1 in 25000 births. So far 70 cases have been reported in literature. Association with maternal diabetes has been reported in 35% of cases. Here we report a case of 10 months old male baby second order preterm 32 weeks very low birth weight 1.2 kg EMERGENCY LSCS (Indication - uncontrolled diabetes mellitus with severe oligohydramnios) with left femoral hypoplasia and abnormal craniofacial features.


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References


Smith’s recognisable patterns of human malformations 7th edition pg 310-311

Franz c h ,and o rahilly –congenital skeletal limb deficiency 43:1202,1961

Lampert R.: Dominant inheritance of femoral hypoplasia unusual facies syndrome clin .genet.17:255,1980

Johnson J.P-femoral hypoplasia-unusual facies in IDM 102:866,1983

Daentl DL, Smith DW, Scott CL, femoral hypoplasia unusual faciessyndrome,j pediatric 1975;86 107-11

Palt S, Ghosh S, Basu M, Gayan, Sengupta A et al femoral hypoplasia unsualfacies syndrome with atypical features:a rare case report j anatsocindia 2004:53(1)22-24

Tadmor OP, Hammerman C, Rabinowitz R et al femoral hypoplasia unusual facies syndrome :prenatal ultrasonographicobservations. fetaldiagnther 1993:B(4) 279-284

Burn J, Winter RM, Baralster M, Hall CM, Fixen J femoral hypoplasia unusual faciessyndromejournal of medical genetics 1984;21:331-40

Orphanet:femoral hypoplasia unusual facies syndrome 2017 june 12

Verma A, Jain N, Jain K additional malformations in femoral hypoplasia with unusual facies syndrome, Indian J paediatrics 2002 69(6):531-32

Femoral hypoplasia unusual facies syndrome-10 months old male baby shows bilateral asymmetrical femoral hypoplasia more in left side, bilateral cryptorchidism, Dysplastic hip, surgical scar in abdomen for inguinal hernia, overriding of toes, flat buttocks, plagiocephaly, low set ears, upturned nose.


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