Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome. ACS syndromes are a group of autosomal dominant syndromes, in which craniosynostosis is associated with acrocephaly and syndactyly. Main features characterizing SCS, also known as ACS III, are premature fusion of the coronal sutures leading to skull deformation, facial dysmorphism, syndactyly, skeletal deformity...

mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the trim37 gene with severe growth retardation and multiple organ involvement. early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. a 37-year-old female patient presented with symp...

The present study investigated the pattern of limb malformations induced in mice by methoxyacetic acid (MAA), one of di(2-methoxyethyl) phthalate (DMEP) metabolites. Pregnant Jcl:ICR mice were given orally at gestational day (gd) 10.5, 11.0, or 11.5 (vaginal plug = gd 0) a single dose of MAA 10 mmol/kg of body weight. Fetuses were examined at gd 15.5 for external and skeletal malformations. Lim...

Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance.There are currently nine types of phenotypically diverse non-syndromic syndactyly, an increase since the original classification by Temtamy and McKusick(1978). Non-syndromic syndactyly is inherited as an autosomal dominant tra...

PURPOSE The purpose of this study is 3-fold: to review our cases of keloid formation after syndactyly release, to report a clinical association between primary enlargement of the digits and risk of keloid formation, and to report treatment using low-dose, short-term methotrexate as an adjunct to revision surgery. METHODS A retrospective review of patients identified with keloid formation afte...

Received November 2007 Accepted March 2008 INTRODUCTION In 1964, Pfeiffer described an acrocephalosyndactyly syndrome consisting of bicoronal craniosynostosis, midface hypoplasia, broad thumbs, broad big toes, and partial and variable soft-tissue syndactyly of the hands and feet.(1) Autosomal dominant inheritance with complete penetrance is the main characteristic despite variable expressivity ...