Autosomal recessive multiple pterygium syndrome: A new variant?

Abstract

Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents.

Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

“…Regarding our patient, even though LMPS is an autosomal recessive condition, the absence of pulmonary hypoplasia, edema and cystic hygroma, or neck webbing, together with the presence of severe craniofacial anomalies excludes its possibility and favors the BPS diagnosis [8, 10, 12]. On the other hand, the localization of the pterygia in our case was more similar to those in popliteal pterygium syndrome (PPS; OMIM 119500) [14].…”

“…Indeed, this finding is not typical of BPS cases as most of the previously reported cases did not have upper extremity webs [9]. Nonetheless, axillary webs were described as an interesting additional finding by Aslan et al [10] and by Veenstra-Knol et al [6]. Accordingly, it has been proposed that axillary web may be one of the rare features of this syndrome [9].…”

“…The terms “lethal popliteal pterygium syndrome” and “lethal pterygium syndrome with facial clefting” have been usually used synonymously to BPS (the same OMIM entry 263650). Another syndrome presented as a different entity in the OMIM catalogue [11]; the multiple pterygium syndrome, Aslan type (OMIM 605203) [10], has a strong resemblance to BPS cases. Interestingly, Teebi et al [12] and Fryns and Moerman [13] suggested that the disorder reported by Aslan et al [10] was BPS.…”

“…Another syndrome presented as a different entity in the OMIM catalogue [11]; the multiple pterygium syndrome, Aslan type (OMIM 605203) [10], has a strong resemblance to BPS cases. Interestingly, Teebi et al [12] and Fryns and Moerman [13] suggested that the disorder reported by Aslan et al [10] was BPS. We believe that the definite demarcation maybe difficult at this stage and it will not be until the gene for BPS is known that we will be able to split or merge these syndromes appropriately.…”

Escobar (multiple pterygium) syndrome: Multidisciplinary approach to a very rare syndrome

“…However, the gene locus of Escobar syndrome was not determined yet. [1][2] It is one of the rarely seen diseases. [3] The other hallmarks of this syndrome are typical facial features such as cleft palate, low-set ears, maloccluded teeth, micrognathia, ankyloglossia and skin folds in the neck.…”