Rizomelik kondrodisplazia punktatali bir vakada hipospadias

Semra Çetinkaya; Fikriye Sarikayalar; Zeynep Alev Özön; Sevim Balci

Rizomelik kondrodisplazia punktatali bir vakada hipospadias

Translated title of the contribution: A case report of rhizomelic chondrodysplasia punctata with hypospadias

Semra Çetinkaya
, Fikriye Sarikayalar
, Zeynep Alev Özön
, Sevim Balci

Division of Pediatrics

Hacettepe University

Research output: Contribution to journal › Article › peer-review

Abstract

Rhizomelic chondrodysplasia punctata is characterized by chondrodysplasia punctata (CDP), ichthyosis, cataracts, and rhizomelic or rhizomesomelic short stature. CDP is the hallmark of the disease, characterized by abnormal punctate calcifications in the dystrophic epiphyseal cartilages, as well as other cartilagenous structures. The disorder belongs to a rare group of skeletal dysplasias, and the incidence is reported to be 1 per 100,000 live births. Two other patients have been reported from Turkey before. Our patient is the first report of a case with chondrodysplasia punctata with hypospadias.

Translated title of the contribution	A case report of rhizomelic chondrodysplasia punctata with hypospadias
Original language	Turkish
Pages (from-to)	273-276
Number of pages	4
Journal	Cocuk Sagligi ve Hastaliklari Dergisi
Volume	47
Issue number	4
Publication status	Published - Oct 2004

Cite this

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title = "Rizomelik kondrodisplazia punktatali bir vakada hipospadias",

abstract = "Rhizomelic chondrodysplasia punctata is characterized by chondrodysplasia punctata (CDP), ichthyosis, cataracts, and rhizomelic or rhizomesomelic short stature. CDP is the hallmark of the disease, characterized by abnormal punctate calcifications in the dystrophic epiphyseal cartilages, as well as other cartilagenous structures. The disorder belongs to a rare group of skeletal dysplasias, and the incidence is reported to be 1 per 100,000 live births. Two other patients have been reported from Turkey before. Our patient is the first report of a case with chondrodysplasia punctata with hypospadias.",

keywords = "Cataracts, Chondrodysplasia punctata, Dilatation of lateral ventriculus, Hypospadias",

author = "Semra {\c C}etinkaya and Fikriye Sarikayalar and {\"O}z{\"o}n, \{Zeynep Alev\} and Sevim Balci",

year = "2004",

month = oct,

language = "T{\"u}rk{\c c}e",

volume = "47",

pages = "273--276",

journal = "Cocuk Sagligi ve Hastaliklari Dergisi",

issn = "0010-0161",

publisher = "Turkish National Pediatric Society",

number = "4",

}

TY - JOUR

T1 - Rizomelik kondrodisplazia punktatali bir vakada hipospadias

AU - Çetinkaya, Semra

AU - Sarikayalar, Fikriye

AU - Özön, Zeynep Alev

AU - Balci, Sevim

PY - 2004/10

Y1 - 2004/10

N2 - Rhizomelic chondrodysplasia punctata is characterized by chondrodysplasia punctata (CDP), ichthyosis, cataracts, and rhizomelic or rhizomesomelic short stature. CDP is the hallmark of the disease, characterized by abnormal punctate calcifications in the dystrophic epiphyseal cartilages, as well as other cartilagenous structures. The disorder belongs to a rare group of skeletal dysplasias, and the incidence is reported to be 1 per 100,000 live births. Two other patients have been reported from Turkey before. Our patient is the first report of a case with chondrodysplasia punctata with hypospadias.

AB - Rhizomelic chondrodysplasia punctata is characterized by chondrodysplasia punctata (CDP), ichthyosis, cataracts, and rhizomelic or rhizomesomelic short stature. CDP is the hallmark of the disease, characterized by abnormal punctate calcifications in the dystrophic epiphyseal cartilages, as well as other cartilagenous structures. The disorder belongs to a rare group of skeletal dysplasias, and the incidence is reported to be 1 per 100,000 live births. Two other patients have been reported from Turkey before. Our patient is the first report of a case with chondrodysplasia punctata with hypospadias.

KW - Cataracts

KW - Chondrodysplasia punctata

KW - Dilatation of lateral ventriculus

KW - Hypospadias

UR - https://www.scopus.com/pages/publications/11144307354

M3 - Makale

AN - SCOPUS:11144307354

SN - 0010-0161

VL - 47

SP - 273

EP - 276

JO - Cocuk Sagligi ve Hastaliklari Dergisi

JF - Cocuk Sagligi ve Hastaliklari Dergisi

IS - 4

ER -

Rizomelik kondrodisplazia punktatali bir vakada hipospadias

Abstract

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