In 1973, Daentl et al. delineate a distinctive pattern of mal- formation which includes femoral hypoplasia and unusual facies in four unrelated individuals. The syndrome is also known as femoral facial syndrome.
GENETICS/BASIC DEFECTS
1. Inheritance
a. Sporadic in most cases
b. Familial cases with autosomal dominant inheritance reported
c. Multifactorial trait in some families
d. Maternal diabetes causative in more than 20% of the reported cases
2. Possible causes
a. Fetal constraint (deformation) due to severe oligohy- dramnios
b. Maternal diabetes (disruption) c. Undetermined etiology
CLINICAL FEATURES
1. Characteristic facial features a. Up-slanting eyes
b. A short nose with broad tip c. Elongated philtrum d. Thin upper lip e. Micrognathia
f. Cleft palate g. Low-set ears
2. Hypoplasia/aplasia of the femurs
a. Presence of some degree of shortened lower extremi- ties in most cases
b. Variable shortening of the lower extremities depend- ing on the absence or degree of hypoplasia of the femurs, with or without absent fibulas
3. Short stature due to reduced length of the lower extremities 4. Normal intelligence
5. Other anomalies
a. Club foot in most cases
b. Occasional polydactyly/syndactyly c. Sprengel deformity
d. Upper extremity hypoplasia e. Restricted motion of the elbows
f. Stiff shoulders
g. Pelvic and spinal abnormalities h. Inguinal hernia
i. Genitourinary anomalies
i. Hypoplastic/dysplastic kidneys ii. Polycystic kidneys
iii. Cryptorchidism iv. Genital hypoplasia
a) Hypoplastic penis b) Hypoplastic labia majora v. Inferiorly placed kidneys vi. Septated urinary bladder j. Rare cardiovascular anomalies
i. Ventricular septal defect ii. Pulmonary stenosis iii. Truncus arteriosus
DIAGNOSTIC INVESTIGATIONS
1. Radiography
a. Mandibular hypoplasia
b. Femoral hypoplasia including proximal femoral focal deficiency
c. Less frequent thoracocostovertebral anomalies i. Thorax: congenital elevation of the scapula
(Sprengel deformity) ii. Ribs
a) Absent b) Hypoplastic c) Fused iii. Spine
a) Dysplastic vertebrae b) Hemivertebrae c) Spina bifida occulta d) Lumbar scoliosis e) Sacral dysgenesis iv. Pelvis
a) Small iliac wings b) Wide obturator foramen
c) Hypoplasia/aplasia of the acetabula with dislocation of the hips
d. Less frequent upper extremity anomalies i. Hypoplasia of the humerus
ii. Radiohumeral/radioulnar synostosis iii. Ulnar deviation of the hands 2. Histopathology
a. Femur from one infant showed hyaline cartilage with foci of fibrous dysplasia
b. A disorganized growth plate and relative decrease in the resting cartilage matrix in another patient
GENETIC COUNSELING
1. Recurrence risk a. Patient’s sib
i. Sporadic cases: not increased
ii. Autosomal dominant inheritance: not increased unless one of the parents is affected
iii. Maternal diabetes: risk is significantly increased b. Patient’s offspring: 50% if the patient has the autosomal
dominant form of the syndrome
395
Femoral Hypoplasia-Unusual Facies Syndrome
396 FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME
2. Prenatal diagnosis possible by ultrasonography in at risk families
a. Micrognathia b. Cleft palate
c. Other facial features d. Short, bowed femora 3. Management
a. Cleft palate repair
b. Care for cardiovascular and genitourinary complications c. Orthopedic management of limb deformity and hip
dysplasia
REFERENCES
Baraitser M, Reardon W, Oley C, et al.: Femoral hypoplasia—unusual facies syndrome with preaxial polydactyly. Clin Dysmorphol 3:40–45, 1994.
Burn J, Winter RM, Baraitser M, et al.: The femoral hypoplasia—unusual facies syndrome. J Med Genet 21:331–340, 1984.
Daentl DL, Smith DW, Scott CI, et al.: Femoral hypoplasia—unusual facies syndrome. J Pediatr 86:107–111, 1973.
DePalma L, Duray PH, Popeo VR: Femoral hypoplasia—unusual facies syn- drome: autopsy findings in an unusual case. Pediatr Pathol 5:1–8, 1986.
Eastman JR, Escobar V: Femoral hypoplasia—unusual facies syndrome: a genetic syndrome? Clin Genet 13:72–76, 1978.
Giacoia GP, Tunnessen WW, Jr: Picture of the month. Femoral hypoplasia—
unusual facies syndrome. Arch Pediatr Adolesc Med 150:761–762, 1996.
Gleiser S, Weaver DD, Escobar V, et al.: Femoral hypoplasia—unusual facies syndrome, from another viewpoint. Eur J Pediatr 128:1–5, 1978.
Hinson RM, Miller RC, Macri CJ: Femoral hypoplasia and maternal diabetes:
consider femoral hypoplasia/unusual facies syndrome. Am J Perinatol 13:433–436, 1996.
Holmes LB: Letter: Femoral hypoplasia—unusual facies syndrome. J Pediatr 87:668–669, 1975.
Hurst D, Johnson DF: Brief clinical report: femoral hypoplasia—unusual facies syndrome. Am J Med Genet 5:255–258, 1980.
Iohom G, Lyons B, Casey W: Airway management in a baby with femoral hypoplasia—unusual facies syndrome. Paediatr Anaesth 12:461–
464, 2002.
Johnson JP, Carey JC, Gooch WM, 3rd, et al.: Femoral hypoplasia—unusual facies syndrome in infants of diabetic mothers. J Pediatr 102:866–
872, 1983.
Lampert RP: Dominant inheritance of femoral hypoplasia—unusual facies syn- drome. Clin Genet 17:255–258, 1980.
Lomo A, Headings V: Femoral hypoplasia—unusual facies syndrome and chromosome X trisomy. South Med J 73:1669–1670, 1980.
Lord J, Beighton P: The femoral hypoplasia—unusual facies syndrome: a genetic entity? Clin Genet 20:267–275, 1981.
Nguyen NH, Mayhew JF: Airway management in a baby with femoral hypoplasia—unusual facies syndrome. Paediatr Anaesth 13:87, 2003.
Pitt D: Kyphomelic dysplasia versus femoral hypoplasia—unusual facies syndrome. Am J Med Genet 24:365–368, 1986.
Pitt DB, Findlay II, Cole WG, et al.: Case report: femoral hypoplasia—unusual facies syndrome. Aust Paediatr J 18:63–66, 1982.
Riedel F, Froster-Iskenius U: Caudal dysplasia and femoral hypoplasia—
unusual facies syndrome: different manifestations of the same disorder?
Eur J Pediatr 144:80–82, 1985.
Robinow M, Sonek J, Buttino L, et al.: Femoral-facial syndrome-prenatal diag- nosis-autosomal dominant inheritance. Am J Med Genet 57:397–399, 1995.
Singh SK, Chandra D, Ravi RN, et al.: Femoral hypoplasia—unusual facies syndrome. Indian Pediatr 34:747–748, 1997.
Sorge G, Ardito S, Genuardi M, et al.: Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FA/H): a model of a developmental field defect. Am J Med Genet 55:427–432, 1995.
Tadmor OP, Hammerman C, Rabinowitz R, et al.: Femoral hypoplasia—unusual facies syndrome: prenatal ultrasonographic observations. Fetal Diagn Ther 8:279–284, 1993.
Urban JE, Ramus RM, Stannard MW, et al.: Autopsy, radiographic, and prena- tal ultrasonographic examination of a stillborn fetus with femoral facial syndrome. Am J Med Genet 71:76–79, 1997.
Verma A, Jain N, Jain K: Additional malformations in femoral hypoplasia:
unusual facies syndrome. Indian J Pediatr 69:531–532, 2002.
FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME 397
Fig. 1. A 3-month old infant with femoral hypoplasia-unusual facies syndrome showing short nose, long philtrum, thin upper lip, microg- nathia, low-set ears, and marked bilateral rhizomelic shortening of the lower extremities. The radiograph showed hip dysplasia and bilateral proximal femoral hypoplasia.
