Table of Contents

HK J Paediatr (New Series)
Vol 14. No. 1, 2009

HK J Paediatr (New Series) 2009;14:46-50

Case Report

Congenital Athelia and Cleft Palate: A Case Report of Two Generations
先天性無乳頭和齶裂畸形:兩代人的病例報導

CP Wong, KK Ng


Abstract

Athelia is a rare condition and is almost always associated with other congenital anomalies. There is a heterogeneous pattern of associated clinical features and inheritance concerning this condition. In this case report, we reported a Chinese patient and her father with congenital athelia associated with cleft palate and sparse hair. Pedigree analysis suggests an autosomal dominant inheritance. A brief account on the related embryology, terminology and classification of the condition is reviewed. Possible underlying causes of the associated features and management issues are discussed.

無乳頭是一種罕見的畸形,且幾乎均合併其他先天性畸形。此種畸形有其相關的臨床表現和遺傳模式。該病例報導了一位中國患者及其父親均患有先天性無乳頭畸形合併齶裂和毛髮稀少。譜系分析表明為常染色體顯性遺傳。同時還簡要綜述了與該病相關的胚胎學、命名及其分類;討論了該病相關症狀出現的可能原因和治療。

Keyword : Absence of breast; Absence of nipple; Amastia; Amazia; Athelia

關鍵詞:無乳頭、無乳房、無乳腺、乳房缺乏、乳頭缺乏

 
 

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