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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
   
     
  Lethal Pterygium syndrome  
     
 
Clinical
Intrauterine growth retardation with poor foetal movements, marked neck oedema and hydrops, multiple pterygia and poor skeletal musculature, hypertelorism, cleft palate, hypoplastic lungs. Reported with absent pyramids (Spearitt).
Differential Diagnosis
Distinguished from lethal popliteal pterygium syndrome, lethal multiple pterygia with bony fusions and an apparently X-linked form with skeletal anomalies.
Radiology
Fusion of cervical spine C3-8 with scoliosis but no other synostoses.
Genetics
Autosomal or X-linked recessive.
 
     
  Traits  
 
Autosomal recessive
Stillbirth / neonatal death
Decreased fetal movements
Hydrops fetalis +/- ascites / pleaural effusion
Fetal / neonatal ascites (see Gastrointestine)
Oligohydramnios
Abnormal placenta
Small for gestational age (IUGR)
Poorly muscled build
Oedema / lymphoedema
Loose skin / lax skin
Macrocephaly
Hypertelorism
Down-slanting palpebral fissures
Micrognathia / aganthia / retrognathia
Short / small nose
Flattened nose
Midline cleft lip
Cleft hard palate
High vaulted and narrow palate
Other abnormality of tongue / gingivave / mucosa
Low set ears
Webbed neck / excess skin / cystic hygroma
Scoliosis
Accentuated lumbar lordosis
Contractures of large joints (soft tissue)
Webbing / pterygia of multiple joints
Camptodactyly (flexion deformity of some fingers)
Ulnar deviation of fingers
Talipers
Rocker bottom foot / vertical talus
Hydranencephaly
Hypoplastic lungs
Diaphragmatic hernia / defect
Other intestinal atresia
Malrotation / duplication of the gut
Hypospadias / epispadias
Small / absent scalpula
Widened ribs
Vertebral malsegmentation / fusion / hemivertibrae
Short / small ilia
Dislocated hip
Radio-ulnar synostosis
Absent / abnormal metacarplas