Multiple Pterygium syndrome (MPS) is characterized by antecubital, popliteal pterygium, short stature, dysmorphic face, kyphoscoliosis, club foot, genital and cardiac malformations. Mutation in the acetylcholine nicotinergic receptor gamma polypeptide gene (CHRNG) is responsible. Mature, 2700 gr born baby hospitalized in intensive care unit due to respiratory distress, syndromic face and contractures. Echocardiography was normal except patent foramen ovale, abdominal, transfontanel, hip, joint ultrasonographies were normal. Karyotype and CHRNG analysis planned by Medical Genetics with preliminary diagnosis of Escobar Syndrome. The patient, consulted with orthopedics and physical therapy departments. When she was 6 months old, brought to the Pediatric Neurology outpatient clinic with tonus increase and contractures. She had head control, but no sitting balance, pterygia in the elbow and knee, rocker bottom, severe scoliosis, and diffuse hemangioma on the face. Chromosome analysis was normal, gene sequence analysis revealed p.Val107Glyfs*29 (c.319_320insG) mutation. Preimplantation genetic diagnosis recommended to the family.
Key words: Escobar syndrome, autosomal recessive, hemangioma
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