FEMORAL HYPOPLASIA – UNUSUAL FACIES SYNDROME

The etiology of this syndrome is unknown. The vast majority of cases are sporadic, however a familial occurrence has been reported raising the possibility of autosomal dominant inheritance.

Maternal diabetes has been frequently documented.

ULTRASOUND

• Small stature due to short lower limbs.
• Craniofacial.
• Short nose with hypoplastic alae nasi.
• Long philtrum.
• Thin upper lip.
• Micrognathia.
• Cleft palate.
• Low set poorly formed pinnae.
• Limbs.
• Bilateral, symmetrical involvement.
• Hypoplastic or absent femora.
• Variable asymmetric involvement of fibula and tibia.
• Variable hypoplasia of the humerus with restricted elbow movement
• Radioulnar and radiohumeral synostosis.
• Sprengel deformity.
• Talipes equinovarus.
• Pelvis.
• Hypoplastic acetabulae, large obturator foraminae.
• Spine.
• Dysplastic sacrum.
• Missing and/or hemivertebrae.
• Scoliosis.
• Genitourinary.
• Cryptorchidism.
• Small penis, testis or labia majora.
• Inguinal hernia.
• Polycystic kidney.
• Absent kidney.
• Others.
• Preaxial polydactyly of the feet.
• Fused or missing ribs.
• VSD, pulmonary stenosis, truncus arteriosus.
• Craniostenosis.

REFERENCES

1. Daentl DL et.al. Femoral hypoplasia-unusual facies syndrome. J Pediatr 1975;86:107.
2. Lampert RP. Dominant inheritance of femoral hypoplasia-unusual facies syndrome. Clin Genet 1980;17:255.
3. Johnson JP et.al. Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers. J Pediatr 1983;102:866.
4. Baraitser M et.al. Femoral hypoplasia-unusual facies with preaxial polydactyly. Clin Dysmorphol 1994;3:40.