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Journal of the Anatomical Society of India

Femoral Hypoplasia-Unusual Facies Syndrome with atypical features-A Rare Case Report

Author(s): Palit S, Ghosh S*, Basu M*, Mondal AK*, Gayan S*, Sengupta A*

Vol. 53, No. 1 (2004-01 - 2004-06)

Department of Anatomy, Department of Paediatrics*, Department of Orthopaedics* R.G.Kar Medical College, Kolkata.


Femoral Hypoplasia- unusual facies syndrome is a rare clinical entity comprising of craniofacial deformities (with cleft palate), bilateral hypoplasia of femur with dysplastic hips, combined with cardiovascular and genitourinary system anomalies. Etiology of this syndrome remains unknown but maternal diabetes is usually associated . Caudal dysgenesis syndrome or sironomelia too has a close resemblance to this condition but in sironomelia , the characteristic pattern of facial defects is always absent. According to some studies the complete syndrome with cleft palate has been found only in females.

In present study a new born female baby, with typical features of femoral hypoplasia- unusual facies syndrome;- facial deformities with cleft palate, bilateral femoral hypoplasia with flexed and adducted hips, associated with subaortic ventricular septal defect and agenesis of right kidney. Karyotype was normal(46 XX). Maternal diabetes was absent in this case but the possible teratogenic influence of antenatal intake of low dose oral contraceptives has to be ruled out.

Key Words: Femoral hypoplasia - unusual facies syndrome (FH-UFS), cranio-facial dysmorphism, effect of oral contraceptives.


Femoral hypoplasia -Unusual facies syndrome encompasses a spectrum of anomalies that include bilateral femoral hypoplasia and cranio-facial dysmorphism with cleft palate. Several others systemic anomalies like cardio-vascular, genito-urinary may be associated with limb defects due to femoral hypoplasia. There is shortening of the femur leading to thigh and leg length discrepancy; Talipes equinovarus deformity may be present.

Here we present a female baby with characteristic facial pattern of FH-UFS with upslanted palpebral fissure, long philtrum with thin upper lip, micrognathia, hypoplastic alae nasi and cleft palate together with subaortic ventricular septal defect and agenesis of right kidney-all related to bilateral femoral hypoplasia. FH-UFS is a rarely considered clinical entity that has a strong association with maternal diabetes, (1996).

Etiopathogenesis of the syndrome remains unknown Trabelsi et al,(1989). It closely resembles Caudal Dysplasia syndrome or Sironomelia which is due to insufficient mesoderm in the caudal part of the embryo causing lumbo-sacral defects, lower limb dysplasia, renal agenesis, but facial anomalies are absent. The possible multifactorial teratogenic exposure on the germ disc has to be assessed (like maternal diabetes, antenatal intake of drug) to rule out the occurrence of this syndrome.

Case Report

The new born female baby was the second child of healthy non-consanguinous parents, delivered by vaginal route at 36th week of gestation.

The mother was 28 years old. The first sibling was a normal full term baby, also delivered by vaginal route, now 4 years old. The birth weight was 1.8 kg and the baby showed signs of birth asphyxia after prolonged labour.The mother had a history of intake of low dose oestrogen-progesterone pills as oral contraceptives antenatally till the end of first trimester, not knowing that she was pregnant. Antenatal records did not reveal the history of maternal diabetes or exposure to any TORCH agents.

Clinical findings (Fig-1) include craniofacial dysmorphism like low set ears, upslanted palpebral fissures, long philtrum with thin upper lip, micrognathia, hypoplastic alae nasi and cleft palate, flexion deformity of left elbow with skin dimpling, bilateral hypoplasia of femur with dyplastic hips, showing flexion and adduction deformity. Length of the thigh was very short compared to leg length, knee joint being rudimentary.

Talipes equinovarus deformity of varying degree, affected both feet.


Revealed bilateral hypoplasia of femur with talipes deformity on X-ray (Fig-2). USG findings showed gross discrepancy in length of thigh(2.2 cm) with leg(2.8 cm.) of both sides indicating hypoplastic femur (Fig-3a, 3b). Right kidney could not be traced along its line of ascent on USG abdomen (Fig-4).

Echocardiography revealed presence of subaortic ventricular septal defect (Fig.-5). Karyotyping done showed a normal chromosome study with 46XX pattern (Fig.-6).

Fig. 1

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Clinical profile of baby with femoral hypoplasia-unusual facies syndrome.

Fig. 2

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X-ray film showing bilateral femoral hypoplasia with talipes deformity.

Fig. 3(A+B)

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USG showing hypoplastic femur (of both sides).

Fig. 4

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USG showing right kidney absent in renal fossa.

Fig. 5

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Echocardiography showing subaortic ventricular septal defect.

Fig. 6

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KARYOTYPE showing normal chromosome pattern (46 XX).


This syndrome includes bilateral femoral hypoplasia, facial dymorphisim with cleft palate, micrognathia, long philtrum, thin upper lip with short broad tipped nose and dysplasia of hips. Other malformations, may be found including skeletal defects and visceral abnormalities in cardiovascular and genitourinary systems. Etiopathogenesis of this syndrome remains unknown (Trabelsi et al, 1989). Preaxial polydactyly may be associated and clinical spectrum of the syndrome, could be stretched further to accommodate other unusual traits, eg- macrophallus and absent tibiaSabry et al, (1996). FH-UFS may be attributed to several foetal constraint, secondary to oligohydramnios, Burn, (1984), as was found in this case with absent right kidney in the renal fossa.

Maternal diabetes is known to have teratogenic effects, malformations, including neural tube defects, caudal dysgenesis, vertebral defects, congenital heart defects, femoral hypoplasia and renal anomalies are described in infants of diabetic mothers. However, craniofacial anomalies have been rarely reported in such infants, Ewart -Toland et al, (2000). In this case maternal diabetes was absent, but our clinical findings showed similar malformations with craniofacial dysmorphisim.

The caudal dysplasia syndrome and FHUFS have been reported to be more frequent among infants of diabetic mothers,Riedel F. et al, (1985). Sironomelia or caudal dysgenesis is a syndrome in which there is insufficient mesoderm in the caudalmost region of the embryo due to which abnormalities of the lower limbs,urogenital system may arise, but craniofacial anomalies are always absent. The presence of characteristic facial defects (with cleft palate) together with cardiovascular and genito urinary anomalies have sharply contrasted this case of femoral hypoplasia -unusual facies syndrome with sironomelia. Chromosome X trisomy in cultured lymphocytes with family history of micrognathia, Lomo A & Headings V (1980) have been related to FH/UFS, micrognathia may lie at one end of the multigenic phenotypic spectrum of anomalies.

From a study conducted on the clinical and radiological findings, to our knowledge the complete syndrome including cleft palate have been reported only in females so far. Femoral hypoplasia without a cleft palate may represent a different entity of possibly autosomal dominant inheritance, or may occur in children of diabetic mothers, Burck U et al, (1981). In this female baby micrognathia and cleft palate were present but karyotype done revealed normal chromosome pattern(46XX).

Thus, the above mentioned case report fits into the classical clinical spectrum of femoral hypoplasia - unusual facies syndrome, but also varies in certain aspects as has been discussed. The possible etiopathogenensis of the syndrome still remains unknown, but the possible teratogenic potential of maternal diabetes has been ruled out in this case. The low dose estrogen-progestrone oral contraceptives might be an attributable risk factor but the possibility of unknown teratogenetic influence may also exist. The objective of establishing such case report would be the assessment of the role of teratogens on the germ disc leading to the unexplained spectrum of anomalies as in this case of femoral hypoplasia unusual facies syndrome.


To all the staff of the Dept. of PAEDIATRICS, RADIOLOGY, CARDIOLOGY and ANATOMY, who sincerely helped us to complete this case report.


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