Operation for van der Hoeve Syndrome.

Closed rhinoseptoplasty in patient with Van der Hoeve-De Klein Syndrome.

Van Der Woude Syndrome

Submit Manuscript | http://medcraveonline.com by a mutation to interferon regulatory factor 6 on chromosome I [2]. They describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome [2]. Typical blind fistulas of the lower lip,...

Successful Treatment of Rapidly Progressive Life-Threatening Esophageal Submucosal Hematoma in a Patient With van der Hoeve Syndrome

Osteogenesis imperfecta (OI) is a rare inherited disorder of the connective tissue with many reports on its association with bleeding diatheses. OI patients with blue sclera, hearing loss, and bone vulnerability are classified as having van der Hoeve syndrome. Here, we report the first case of rapidly progressing, massive esophageal submucosal hematoma in this syndrome. Bleeding in OI is report...

Osteogenesis imperfecta of the temporal bone: CT and MR imaging in Van der Hoeve-de Kleyn syndrome.

We report the progressive otic capsule demineralization around the membranous labyrinth and facial nerve in an adult patient with osteogenesis imperfecta tarda. Whereas the initial CT scan showed bandlike, undermineralized pericochlear areas, 2 years later, repeat CT performed because of hearing deterioration showed progression of these findings to the promontory, the round window niche, and th...

Van der Woude syndrome in twins.

This article discusses monozygotic twin patients with Van der Woude syndrome, the most common form of syndromic cleft lip and palate, who have concordant manifestations. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with clinical features, including lower lip sinuses with a cleft lip, cleft palate, or both. Some mutations ha...