Limb pterygium syndromes: A review and report of eleven patients

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.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

“…Foetal akinesia deformation sequence syndrome (FADS) is characterised by a variable combination of foetal akinesia, prenatal growth restriction, developmental defects (including cleft palate, cryptorchidism, cystic hygroma, heart abnormalities, intestinal malrotation and lung hypoplasia), arthrogryposis and, in some cases, limb pterygia, so that there is phenotypic overlap between FADS and severe cases of multiple pterygium syndrome (MPS) [1]. Clinically MPS can be divided into the severe lethal form (LMPS) and the milder non-lethal Escobar type (EVMPS).…”

Interlink of Two Syndromes - Demarquay-van der Woude and Popliteal Pterygium in One Family Group

“…The most consistent malformations of this syndrome, in descending order of frequency, are the popliteal pterygium (webbing of the skin extending from the ischial tuberosities to the heels), cleft palate and/or lip, mostly an extensive single lower lip pit with salivary drainage, genital anomalies and synechia or syngnathia. The pterygium disorder presents with an intra-familial variability [11][12][13].…”

“…Cleft palate with or without cleft lip presents in almost all cases of PPS [12,16] and is most frequently accompanied by mandibular lip pits [17,18]. Congenital synechia is a rare phenomenon with only a few documented cases as an intraoral web [19].…”

“…The pathognomonic deformity of the great toe consisting of a triangular pterygium extending from the nail fold to the middle of the free margin of the nail maybe found in 30% of the patients. Syndactyly is described in 50% of the patients in PPS [12,16].…”

Popliteal Pterygium Syndrome

“…'6 The underlying mechanism for the popliteal pterygium syndrome is thus clearly different from the mechanism in multiple pterygium syndrome, where no displacement of muscles is found and the pterygia formation is attributed to limited intrauterine joint mobility. 38 The congenital sinuses of the lower lips are thought to be a remnant of the lateral sulci originating from a genetic defect. 4 …”