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Genetic Counseling
Introduction
Dysmorphologist Corner
 
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
   
     
  Bartsocas-Papas syndrome  
     
 
 
 
     
  Synonyns  
  Lethal popliteal Ptergium syndrome  
     
  Clinical  
  1. Popliteal ptergium syndrome with ankyloblephron filliforme, filliforme Bands etween jaws ,syndactylyand clefts.reported with organ defects (hennekam)
2. Most neonatally lethal but survival upto 20 Month
 
     
  Genetics  
  1. Autosomal Recessive.
2. Generalized Vascular disruption proposed as the most likely Pathogenetic mechanism.
 
     
  Traits  
 
Autosomal recessive
Still birth neo natal death.
Death in infancy/childhood.
Hydramnios/ployhydramnios.
Small for gestational age.
Very thin build.
Decreased body hair.
Patches of skin hypoplasia.
Plagiocephaly.
Facies significantly abnormal.
Hypertonism.
M idface hyperplasia.
M icrocephaly.
Grooved chin
Abnormal facial clefts.
Absent eyebrows.
Coloboma of the eyelid.
Corneal clouding.
Short small nose
Cleft nose
Lateral cleft lip
Oral synechiae
Abnormally placed nipples.
Webbing
Syndactly of fingers.
Talipes
Missing toes.
Imperforate anus.
Small penis
Scrotal abnormality
Abnormal external femasle genitalia
Uterine vaginal abnormality
Carpal osteolysis
Symphalangism
Othrer knee defects.
Tiblae absent
Other phalangeal abnormalities