Babies commonly present with skin anomalies at or shortly after birth. While physiological cutis marmorata is a frequently encountered condition, we report a rare entity that appears similar, but should not be confused with it. Cutis marmorata telangiectatica congenita (CMTC) is a rare, sporadic condition that presents at birth as a localised or generalised reticulated, blue-violet vascular net...

INTRODUCTION Thrombocytopenia with absent radii is a rare congenital defect with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia that may have additional anomalies. We report the case of a girl baby with thrombocytopenia and absent radii syndrome and bilateral congenital cataract. This anomaly has not been previously reported in the children of a non- consanguineous marriage. ...

Condylar aplasia which means "failure of development" is a rare condition and can be unilateral or bilateral. Mandibular condylar Aplasia without any association with syndrome is extremely rare. Temporomandibular joint (TMJ) ankylosis results from trauma, infection and inadequate surgical treatment of the condylar area. Congenital cases are very rare. We report case of congenital unilateral apl...

To cite: Resende CIP, Araujo C, Vieira AP, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-200056 DESCRIPTION Cutis marmorata telangiectatica congenita (CMTC) is a skin vascular malformation of low flow, compromising venous and capillary vessels, of unknown origin, with about 300 cases described in the literature. 2 Clinical manifestations include a p...

In 2005, Kreidstein first proposed the term "Cutis pleonasmus," a Greek term meaning "redundancy," which refers to the excessive skin that remains after massive weight loss. Cutis pleonasmus is clearly distinguishable from other diseases showing increased laxity of the skin, such as pseudoxanthoma elasticum, congenital and acquired generalized cutis laxa. Although individuals who are severely o...