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Results for “Syndactyly”

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At least 361 records · Page 20Linked to original sources
PubMed1993

Keratin pattern of acanthosis nigricans in syndromelike association with polythelia, polycystic kidneys, and syndactyly.

BACKGROUND: Acanthosis nigricans (AN) comprises a broad spectrum of etiologic subtypes. The underlying pathomechanisms have not yet been completely clarified. We present a patient affected with a syndromelike AN subtype including disturbed epidermopoiesis as evidenced by immunohistologic findings and in situ hybridization. OBSERVATIONS: A 54-year-old white man contracted AN during childhood. There were connate malformations consisting of webbed toes II/III on the right side and a supernumerary left mammilla. As an adult he developed psoriasis vulgaris, obesity, and latent diabetes mellitus, polycystic kidney and liver disease. With regard to keratin 6 mRNA, and the protein expression of keratin 6/16, KI-67, and proliferating cell nuclear antigen, the AN lesion showed moderate hyperproliferation. A much higher degree of hyperproliferation was evident in psoriatic areas of the patient's skin. In contrast to psoriatic tissue, basal keratinocytes of the AN showed an unusually high expression of keratin 18 and 19 protein. CONCLUSIONS: The observation thus deals with a unique, syndromelike constellation of AN characterized by a particular epidermal pattern of moderate hyperproliferation. A further dysregulation of protein expression in the epidermis is indicated by the demonstration of the rare keratins 18 and 19 in basal keratinocytes of the AN lesion.

Abnormalities, Multiple↗
PubMed1994

Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids.

A new case of Fraser syndrome with abnormalities of the genital, urinary and skeletal system is reported. The female newborn died shortly after birth. In contrast to cases of Fraser syndrome reported earlier and to widely accepted theories of eye development the present case presented with normal bilateral eyelids although no tissue of ophthalmic origin was found in the orbital cavities on histological examination.

Anophthalmos↗
PubMed1998

Syndactyly release: results of the Flatt technique.

The results of 50 web reconstructions in 35 hands in 24 patients were reviewed. The technique described by Flatt was used in all cases. Web creep occurred in 13 webs (26%) of which 11 were operated before the age of 2 years. Active abduction was seen in 86% of the involved fingers. A normal or near normal web was seen in 74%. Cosmesis was satisfactory in 64%.

Adolescent↗