LETHAL MULTIPLE PTERYGIUM SYNDROME

References

Abdomen
Attenuated ascending and transverse colon
Intestinal malrotation
Megaureter and hydronephrosis
No appendix
Cardiovascular
Cardiac hypoplasia
Midforehead hemangioma
Craniofacial
Epicanthal folds
Flat nose
Long philtrum
Low-set malformed ears
Microcephaly
Micrognathia
Gastrointestinal
Diaphragmatic hernia
Genitourinary
Cryptorchidism
Growth
Deficiency of prenatal onset
Hands
Hypoplastic dermal ridges and creases
Joints and Tendons
Joint contractures
Neurologic Abnormality
Cerebellar and pontine hypoplasia with absence of pyramidal tracts
Decreased size of white matter tracts in spinal cord
Ocular
Ocular hypertelorism
Upward slant to palpebral fissures
Oral
Cleft palate
Small mouth
Skeletal
Fusion of long bones
Posterior vertebral fusion
Radiologic evidence of undermodeling of long bones and hypoplasia of vertebrae sacrum ileum ischium ribs clavicles and scapulae
Short neck
Thin gracile long bones
Skin
Neck edema and loose skin
Pterygia present in the following areas chin to sternum cervical axillary antecubital crural popliteal and ankles
Thorax
Small chest