Abstract

The First Case of Cutis Laxa Type II (Debre Type) Associated with Atrial Septal Defect

Cutis laxa type II (MIM 219200) is a rare congenital disorder, first described by Debre et al. in 1937. During the period from 1937 to 2008, there have been 34 (25 females and 9 males) well-documented published cases of this rare disorder.

In 2009, I reported the thirty fifth case of this disorder and I also reviewed the previously published and thirty four well documented cases. A dysmorphic girl was referred at the age of Four years (early April 2016) because of skin abnormality and delayed speech. The girl had cutis laxa with redundant loose skin present from birth. This skin abnormality was evident on the limbs and abdomen. Dysmorphic facial feature included, broad and depressed nasal bridge, and the eyes were wide set with downslanting palpebral fissures. Examination of the cardiovascular system was normal except for the presence of a systolic murmur. Echocardiography revealed the presence of a small atrial septal defect.

In this paper, I am reporting the 36th case of Cutis laxa (Debre type) which is the first case to be associated with atrial septal defect.


Author(s):

Aamir J Al-Mosawi



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