background cutis marmorata telangiectatica congenita (cmtc) is a sporadic congenital skin vascular abnormality. significant number of patients has other congenital anomalies. case report we report a case of a preterm male newborn with cutis marmorata pattern presented on the skin of the face, right side of front of the trunk, whole back, glutei and both legs. besides, microretrognatia and asymm...

BACKGROUND Cutis marmorata telangiectatic congenital or Van Lohuizen syndrome is a rare vascular disorder that may be associated with other congenital malformations. Around 300 cases have been reported so far. CASE REPORT We present a 4-year-old girl with Van Lohuizen syndrome of the leg, but without any other malformations. CONCLUSION Neonatal lupus erythematosus may resemble congenital va...

Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous vascular disorder that was first described in 1922 by Van Lohuizen (1). The clinical presentation is one of persistent cutis marmorata, phlebectasia, telangiectasia, and areas of ulcerations. The disorder shows slow clinical improvement over time. Previously, CMTC has also been described as congenital generalized phlebectasia ...

hypothyroidism is usually associated with delayed pubertal development but in rare occasions precocious puberty may ensue which is seen in cases of prolonged and untreated hypothyroidism. this is also called the van wyk grumbach syndrome. here we present 4 cases of precocious puberty due to hypothyroidism.

ellis-van creveld syndrome is transmitted as an autosomal recessive trait. this syndrome is accompanied in 60% of cases with congenital heart disease, mostly single atrium or large asd. patients are mostly symptomatic, but in this rare case despite 68 years of age, the patient was free of symptoms except for complete heart block for which pacemaker was inserted

chondroectodermal dysplasia (ellis-van creveld syndrome) is a rare autosomal recessive congenital abnormality. this syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. it is imperative to not overlook the cardiac complications in patients with this syndrome during den...

R e v i e w The unfolding drama of flower development: recent results from genetic and molecular analyses Hong Ma Research papers Posterior transformation, neurological abnormalities, and severe hematopoietic defects in mice with a targeted deletion of the bmi-1 proto-oncogene Nathalie M.T. van der Lugt, Jos Domen, Koert Linders, Marian van Roon, Els Robanus-Maandag, Hein te Riele, Martin van d...

brown-vialetto-van laere syndrome (bvvls) is a rare neurological disorder. we report our finding about four patients clinically and electrophysiologically diagnosed as bvvls and denoted their clinical features with comparison to previous reports. the first symptom was bilateral hearing loss and the onset of other cranial nerves involvement varied between 0-15 years. our patients represented som...