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Limb pterygium syndromes: a review and report of eleven patients
Insights
This study reviews limb pterygia and congenital contractures in infants with arthrogryposis, detailing inheritance patterns and variability in distinct pterygium conditions. Findings highlight multiple pterygium syndrome and associated anomalies in affected infants.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Pediatrics
Background:
- Arthrogryposis multiplex congenita is a complex condition characterized by multiple joint contractures.
- Limb pterygia, or webbing, are a less common but significant feature associated with certain arthrogryposis subtypes.
- Understanding the genetic basis and phenotypic variability of pterygium conditions is crucial for diagnosis and management.
Observation:
- The study reviewed over 350 infants with arthrogryposis, identifying 11 with limb pterygia.
- Seven patients presented with autosomal recessively inherited multiple pterygium syndrome, exhibiting joint webs, contractures, syndactyly, and specific facial features.
- Three patients from one family had a lethal form of multiple pterygium syndrome, including severe contractures and internal malformations.
Findings:
- Multiple pterygium syndrome demonstrates autosomal recessive inheritance with intrafamilial variability.
- Associated anomalies include joint webbing, contractures, syndactyly, rocker bottom feet, ptosis, and facial dysmorphisms.
- Lethal forms can involve severe internal malformations such as pulmonary hypoplasia and cardiac defects.
Implications:
- This research clarifies the inheritance and variability of limb pterygia in arthrogryposis, aiding genetic counseling.
- Recognition of distinct pterygium syndromes improves diagnostic accuracy and prognostic assessment.
- Further research into the molecular mechanisms underlying pterygium formation can inform therapeutic strategies.
Abstract:
Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here. Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (Patients 1-7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability. Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low-set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon. One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low-set ears with slit-like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia.