The Bartsocas‐Papas syndrome: Autosomal recessive form of popliteal pterygium syndrome in a male infant

Abstract

We report on an additional patient with the severe autosomal recessive form of the popliteal pterygium syndrome. The patient was diagnosed at birth and had all of the phenotypic manifestations of this rare syndrome. Clinical findings and natural history suggest this is a distinct genetic entity.

A Case of a New Syndrome or a Variant of the Rare Popliteal Pterygium Syndrome

“…Mental retardation was a part of this variant and very few of the patients survived the first few weeks of life. 13 Our patient was three months of age and her postnatal mental and physical growth and development were normal. It was reported to be a sporadic case by the genetics department as there was no genetic abnormalities in her parents and relatives.…”

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

“…This uncommon disorder is considered to be autosomal dominant, though autosomal recessive inheritance has been suggested [10]. 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.…”

“…Kondo et al have demonstrated that mutations in the gene encoding of the transcription factor interferon regulatory factor 6 (IRF6) cause DVWS. The IRF6-protein, which plays a predominant role in embryological facial development, is found in the medial edges of the paired palatal shelves around the time of fusion [10].…”

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

“…However, he did not present with pterygia, the cardinal feature present in the majority of cases of BPS [2, 6]. The case survived to adolescence although it is well known that the BPS is a lethal syndrome with very few case reports of patients who survived beyond infancy [3, 4]. The patient had mental retardation and short stature, two characteristics that were not argued in BPS due to early lethality of cases.…”

“…Most affected cases die perinatally or few months after birth [2], although occasional survival has been reported [3, 4]. Since its first description in 1972 [1], BPS has been diagnosed repeatedly in literature with 24 cases reported up till now, mostly of Mediterranean ancestry [5, 6].…”