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Genetic Counseling
Introduction
 
Archives
Bartsocas-Papas Syndrome
Neu laxova
Robert's Syndrome
Meckel Gruber Syndrome
Golden har
Achondrogenesis
Lethal Pterygium syndrome
Turner's Syndrome
Morquio Syndrome
Ellis-van Creveld syndrome
Femoral hypoplasia
   
     
  Femoral hypoplasia  
     
 
Synonyms
Femoral-facial syndrome
Clinical
Characterisitc facies with high forehead, short nose with broad tip, long philtrum, thin upper lip, micrognathia, cleft palate, micromia, deformed pinnae. Hypoplastic femur with variable lower limb shortening; hypoplastic fibulae frequent. Preaxial polydactyly of toes described (Baraitser). Upper limbs affected in some cases (hypoplastic humerus, radio-ulnar synostosis). Reported with Rokitansky sequence (Bau) & with severe caudal defects (Riedel). Severe manifestations with early lethality, vertebral & genitourinary anomalies have been reported (Urban, Johnson), particularly in association with maternal diabetes. One severe case had additional features of heterotopia of brain (Gillerot).
 
     
  Differential diagnosis  
 
Distinguish from Femur-fibula-ulna syndrome which presents with upper limb anomalies and normal facies, and Absence deformity of one leg, congenital cataracts on associated features.
Compare Lethal chondrodypsalia punctata, unilateral absence of femur.
 
     
  Radiology  
 
Short or absent femora, frequently short or absent fibulae, oligodactyly, clubfeet. Hypoplastic iliac bodies with abnormally developed acetabulae. Occasional fusion or absence of lower vertebral bodies.
 
     
  Genetics  
 
Autosomal dominant reported in some cases (Robinow)
 
     
  Warning  
  We have found the traits listed below useful for matching this diagnosis. The traits are not intended to define this syndrome.  
     
  Traits  
 
Autosomal dominant
Other exogenous cause / disruption
Other cause
Small for gestational age (IUGR)
Asymmetry of the body / hemihypertrophy / hemiatrophy
Short stature - prenatal / intrauterine dwarfism
Short stature - postnatal
Short limbs
Skin dimples
Pointed chin
Depressed nasal bridge
Cleft nose / bifid tip
Thin lips
Long philtrum
Low set ears
Anteverted / prominent / bat ears
Sprengel anomaly
Inguinal hernia
Scoliosis
Limb deficiency - ray
Bony restriction of joint anomaly
Contractures of large joints (soft tissue)
Syndactyly of fingers
Talipes
Hypoplastic lungs
Tracheal abnormality
Agenesis / hypoplasia of kidneys
Ureteric abnormalities (reflux / hydronephrosis)
Small penis
Markedly asymmetric involvement
Halberd-shaped ilia / crescent-shaped iliac wings
Irregular / abnormal acetabular roof
Irregular shape of pubic and ischial bones
Other sacrum / pelvis
Dislocated hip
Absent / normal humerus
Radio-ulnar synostosis
Humero-radial fusion
Sirenomelia / hypoplastic lower limbs
Tibiae, fibulae absent