Apert syndrome is a rare which presents with craniosynostosis, severe syndactyly, and dysmorphic facial features. It mainly caused by new mutation in fibroblast growth factor receptor-2 gene. Up-regulation of this gene results bone fusion nuclear deficiency the transcription FoxO1 key pathogenesis acne. We present herein 19-year-old man nodulocystic acne associated acrocephaly, prominent forehe...

Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present. The objective of this study was to correlate brain malformations and timing for surgery with neuropsychological evaluation. We also tried to determine other relevant aspects involved in cognitive development of these patients such as social classif...

BACKGROUND Correction of digit deformities at or near the Joints is performed easily ; however, maintaining the result is often difficult either due to noncompliance of the patient to wear the postoperative splints or problems related to unequal growth of bones or normal tissues compared to the scarred or operated side. OBJECTIVES The aim of this study was to overcome the above mentioned prob...

Bandoh reported the 3-square-flap method as a procedure for interdigital space reconstruction in patients with minor syndactyly. We recently modified this flap design so that it could be used in the treatment of toe syndactyly involving fusion of the areas distal to the proximal interphalangeal joint. With our method, the reconstructed interdigital space consists of 4 oblong flaps (A through D)...

Two inherent challenges in the mechanistic interpretation of protease-deficient phenotypes are defining specific substrate cleavages whose reduction generates and determining whether result from loss function, accumulation, or a function(s) embodied fragments. Hence, recapitulation phenotype by cleavage-resistant would stringently validate importance proteolytic event clarify underlying mechani...

DOI: 10.1590/S1679-45082014AI2931 A previous healthy 7-year-old boy presenting occipital headache and constantly wake up at night with 1 week of evolution was admitted to our emergency service. He had linear hypopigmented macules along the lines of Blaschko affecting hemithorax and left upper limbs (Figure 1). The patient also had macrocrania, antimongoloid palpebral fissure, changes in left ey...

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...