Escobar Syndrome Affecting Two Male Siblings in a Family: A Rare Case Report

Escobar syndrome also known as non lethal type of multiple pterygiumsyndrome, is characterised by webbing (pterygium) of neck, axilla and extremities, fixed contracture of multiple joints (arthogryposis) and with normal intelligence.Pterygium syndromes are heterogenous group of disorders with sporadic, autosomal recessive (most common) and autosomal dominant inheritance pattern. We report two male siblings born of consanguineous marriage with Escobar syndrome.

[1]  D. Seelow,et al.  Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. , 2008, American journal of human genetics.

[2]  E. Calzolari,et al.  Familial occurrence of multiple pterygium syndrome: Expression in a heterozygote of the recessive form or variability of the dominant form? , 2006, American journal of medical genetics. Part A.

[3]  P. Robinson,et al.  Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. , 2006, American journal of human genetics.

[4]  D. Price.  SMITH's RECOGNISABLE PATTERNS OF HUMAN MALFORMATION , 2006 .

[5]  R. Spiegel,et al.  A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family , 2005, American journal of medical genetics. Part A.

[6]  S. Mundlos,et al.  Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman † , 2005, American journal of medical genetics. Part A.

[7]  S. Danda,et al.  Chromosomes 6/7 translocation t(6:7)(q15;32) presenting as multiple pterygium syndrome. , 2001, Indian pediatrics.

[8]  H. Meinck,et al.  Two sisters with Escobar syndrome. , 1995, American journal of medical genetics.

[9]  E. Poskitt.  American Journal of Diseases of Children , 1991, Archives of disease in childhood.

[10]  P. Beighton,et al.  Autosomal dominant antecubital pterygium: syndromic status substantiated , 1988, Clinical genetics.

[11]  V. Penchaszadeh,et al.  Multiple pterygium syndrome. , 1981, Journal of medical genetics.

[12]  D. Amalnath,et al.  Escobar syndrome in three male patients of same family , 2011, Indian journal of human genetics.

[13]  D. Weaver,et al.  Popliteal pterygium syndrome A phenotypic and genetic analysis , 2004 .

[14]  J. Fryns,et al.  The lethal multiple pterygium syndrome: a nosological approach. , 1990, Genetic counseling.