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Lethal multiple pterygium syndrome

Orpha number ORPHA33108
Synonym(s) Autosomal recessive lethal multiple pterygium syndrome
LMPS
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
X-linked recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q79.8
ICD-O -
OMIM
UMLS
  • C1854678
MeSH
  • C537378
MedDRA -
SNOMED CT
  • 60192008

Summary

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton. In total, 47 foetuses with LMPS have been reported in 28 families. Of these cases, 28 foetuses were male and 19 were female. Fourteen of the 28 families had affected males only, including five with multiple affected males. LMPS is characterised by growth deficiency of prenatal onset, pterygia present in multiple areas (chin to sternum, cervical, axillary, humero-ulnar, crural, popliteal, and the ankles) and flexion contractures giving rise to severe arthrogryposis. Subcutaneous oedema varies from mild oedematous skin to foetal hydrops with cystic hygroma, lung hypoplasia, and oligohydramnios. Facial anomalies include hypertelorism, epicanthal folds, flat nasal root, microretrognathism and microstomia, down-slanting palpebral fissures, low-set malformed ears, and cleft palate. Other anomalies include small chest, cryptorchidism, hypoplastic dermal ridges and creases, and more occasionally midforehead haemangioma, intestinal malrotation, cardiac hypoplasia, diaphragmatic hernia, obstructive uropathy, microcephaly, or cerebellar and pontine hypoplasia. Malignant hyperthermia was described as a major complication before death in a brother and a sister with LMPS. LMPS was originally considered as an autosomal recessive condition but the report of four affected male foetuses in a family with non-consanguineous parents raised the question of the existence of an X-linked recessive type of LMPS. LMPS is one among several disorders characterised by multiple cutaneous webs limiting joint mobility and congenital anomalies involving the head, neck, face, vertebrae and genitalia. Heterogeneity has been observed between these syndromes due to increasing awareness of the need to perform complete autopsies on abortuses and still/neonatal births. The LMPS should be distinguished from the lethal popliteal pterygium (Bartsocas Papas) syndrome, where pterygium are limited to the popliteal region and lethal multiple, from non lethal forms or multiple pterygium syndromes, and from the Pena-Shokeir syndrome type I or foetal akinesia sequence. Fetal X-ray allows two possibly distinct forms of LMPS to be identified: one with spinal fusion and one with congenital bone fusions. In the form with spinal fusion, there is fused spinal process of the vertebrae and the limbs are very short and broad with fusion of epiphyseal cartilage of the long bones (humero-ulnar or radio-ulnar). In the form with congenital bone fusions, the legs are thin with decreased muscular mass and the cartilage of the femur and tibia are fused but their modelling is normal. The presence of cystic hygroma and hydrops make antenatal diagnosis possible in the second trimester for most pregnancies following the occurrence of an index case. In absence of an index case, the diagnosis may be made later in pregnancy. As the condition is lethal, termination of the pregnancy may be proposed.


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