Femoral hypoplasia-unusual facies syndrome: a rare clinical entity

Authors

  • Vinaya Lichade Division of Neonatology, Department of Pediatrics, T. N. Medical College and B. Y. L. Ch. Nair Hospital, Mumbai, Maharashtra, India
  • Poonam Wade Division of Neonatology, Department of Pediatrics, T. N. Medical College and B. Y. L. Ch. Nair Hospital, Mumbai, Maharashtra, India
  • Prachi Gandhi Division of Neonatology, Department of Pediatrics, T. N. Medical College and B. Y. L. Ch. Nair Hospital, Mumbai, Maharashtra, India
  • Shruti Saxena Division of Neonatology, Department of Pediatrics, T. N. Medical College and B. Y. L. Ch. Nair Hospital, Mumbai, Maharashtra, India
  • Sushma Malik Division of Neonatology, Department of Pediatrics, T. N. Medical College and B. Y. L. Ch. Nair Hospital, Mumbai, Maharashtra, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20185217

Keywords:

Caudal dysplasia syndrome, Craniofacial dysmorphism, Femoral hypoplasia, Sirenomelia

Abstract

Femoral hypoplasia-unusual facies syndrome (FH-UFS) is a disorder with multisystem involvement comprising predominantly of craniofacial dysmorphism with bilateral hypoplastic femurs. The exact etiology of this disorder is unknown, however maternal infections, drug and radiation exposure, oligohydramnios has been implicated. In affected children born to non-diabetic mothers, a genetic contribution is suspected; however, no chromosomal or gene mutations have been identified so far. The syndrome closely resembles with caudal dysplasia or syringomyelia which occur due to insufficient mesoderm in the caudal part of the embryo leading to lumbosacral defects, renal agenesis, and dysplastic lower limbs, however they lack craniofacial dysmorphism. The pathogenesis of FH-UFS involves poor development of subtrochanteric portion of the femoral cartilage. This results in shortening of proximal femur. Maternal diabetes justifies the teratogenic effect of hyperglycemia and ketones on fetus leading to dysmorphic features in fetus. Here, we are reporting a female neonate with characteristic phenotypic features of FH-UFS. She had cleft lip and palate, low set ears, retrognathia and micrognathia, dolichocephaly with bilateral femoral hypoplasia with talipes deformity of both feet. Karyotype was normal (46XX). Renal and cranial ultrasounds were normal. The 2D Echo revealed small 0.3mm PDA.

References

Palit S, Ghosh S, Basu M, Mondal AK, Gayan S, Sengupta A. Femoral hypoplasia-unusual facies syndrome with atypical features-a rare case report. J Anat Soc Ind. 2004;53(1):22-4.

Daentl DL, Smith DW, Scott CI, Hall BD, Gooding CA. Femoral hypoplasia-unusual facies syndrome. J Pediatr. 1975;86:107-11.

Johnson JP, Carey JC, Gooch WM, Petersen J, Beattie JF. Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers. J Pediatr. 1983;102:866-72.

Paladini D, Maruotti GM, Sglavo G, Penner I, Leone F, D'Armiento MR, et al. Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. Ultrasound Obstet Gynecol. 2007;30(3):354-8.

Burn J, Winter RM, Baraitser M, Hall CM, Fixsen J. The femoral hypoplasia- unusual facies syndrome. J Med Genet. 1984;21(5):331-40.

Gorlin RJ, Cohen Jr MM, Hennekam RC. Syndromes of the head and neck. Oxford University Press; 2001.

Rekik M, Sghir M, Ksibi I, Said W, Saida J, Kessomtini W. Femoral hypoplasia-unusual facies syndrome: A case report and literature review. J Med Res. 2016;2:141-3.

Trabelsi M, Monastiri K, Hammami A, Touzi C, Ben Hariz M, Gharbi HA, et al. Femoral hypoplasia with facial dysmorphism: about a new observation. Ann Pediatr. 1989;36(10):693-6.

DePalma L, Duray PH, Popeo VR. Femoral hypoplasia-unusual facies syndrome: autopsy findings in an unusual case. Pediatr Pathol. 1986;5(1):1-8.

Goldberg RB, Fish B, Cohen MM Jr, Shprintzen RJ. Bilateral femoral dysgenesis syndrome: a case report. Cleft Palate J. 1978;15(4):386-9.

Jones KL, Jones MC, del Campo M. Smith’s Recognizable Patterns of Human Malformation. 7th ed. Philadelphia: Saunders; 2013:350-352.

Squiers MT, Rideout M, Laub Jr D. Femoral-facial syndrome. Eplasty. 2014;14.

Garcia VD, Aragon VCR, Trevino AMG, Rivera SG. Femoral hypoplasia- unusual facies syndrome: A case report. Chil Pediatr. 2016;87(1):59-62.

Shenoy SR, Mondal D, Upadhyay MR, Gupta BK, Mahar J. Femoral hypoplasia with unusual facies syndrome. J Clin Diagn Res. 2017;11(8):SD03-04.

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Published

2018-12-24