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Lethal Pterygium syndrome |
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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). |
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| Differential Diagnosis |
| Distinguished from lethal popliteal pterygium syndrome, lethal
multiple pterygia with bony fusions and an apparently X-linked
form with skeletal anomalies. |
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| Radiology |
| Fusion of cervical spine C3-8 with scoliosis but no other
synostoses. |
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| Genetics |
| Autosomal or X-linked recessive. |
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Traits |
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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 |
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