A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: Coincidental findings or a new entity?

KARGI, AYŞE; Balci, Sevim; AKÖZ, TAYFUN; Kargi, Şebnem; Erdoǧan, Bülent

A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: Coincidental findings or a new entity?

KARGI A. B., Balci S., AKÖZ T., Kargi Ş., Erdoǧan B.

Turkish Journal of Pediatrics, cilt.43, sa.2, ss.166-171, 2001 (Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 43 Sayı: 2
Basım Tarihi: 2001
Dergi Adı: Turkish Journal of Pediatrics
Derginin Tarandığı İndeksler: Scopus
Sayfa Sayıları: ss.166-171
Anahtar Kelimeler: FISH-based assay for rubinstein-Taybi syndrome, Multiple pterygium syndrome, Rubinstein-Taybi syndrome, Rubinstein-Taybi-like syndrome
Maltepe Üniversitesi Adresli: Hayır

Özet

We report a case with broad, deviated thumb and big, duplicated, deviated toes resembling Rubinstein-Taybi syndrome. But the patient did not have severe mental retardation as in Rubinstein-Taybi syndrome and had no microdeletions on chromosome 16 by FISH-based assay. This patient had mild webbing as seen in multiple pterygium syndrome, but broad-deviated thumb has not been reported in this syndrome. We discuss whether these are coincidental or overlapping findings or whether this is a possible new clinical entity.