Perinatology.  2017 Dec;28(4):156-161. 10.14734/PN.2017.28.4.156.

Ehlers-Danlos Syndrome in a Newborn Mistaken for Edwards Syndrome

• Kim SK
• An JW
• Lee SH
• Oh YK

• KMID: 2409124
• DOI: http://doi.org/10.14734/PN.2017.28.4.156

Abstract

The Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder with special characteristics such as joint hypermobility, tissue fragility and skin abnormalities. The recently classification divide six subtypes. Dermatosparaxis types of these are recessively inherited connective tissue disorders and caused by a deficient function of procollagen I N-proteinase (ADAMTS2). In this report, craniofacial features were found such as micrognathia, narrow forehead covered with dense hair, broad nasal root and narrow upper lip. Clenched fists and rocker bottom feet were found which are typically shown at patients of Edwards syndrome. We report a first case of a newborn with EDS of Dermatosparaxis type confirmed by microarray test in Korea.

Keyword

Ehlers-Danlos syndrome; Edwards syndrome; ADAMTS2

MeSH Terms

Classification
Connective Tissue
Ehlers-Danlos Syndrome*
Foot
Forehead
Hair
Humans
Infant, Newborn*
Joint Instability
Korea
Lip
Micrognathism
Procollagen
Skin Abnormalities
Procollagen

Figure

• 

  Fig. 1 (A) Patient had a generalized edema with hypotonia state and orofacial features included short forehead with hypertrichosis, flat supraorbital ridges, a broad nasal root, wide nares, a smooth philtrum, and micrognathia. (B) Both hands were clenched into fists with his index finger overlapping his other fingers. (C) Both feet showed a form of rocker bottom.

• 

  Fig. 2 (A) On kidney ultrasonography, left renal pelvis was mildly dilated (6 mm), suggesting pyelectasia. On echocardiography, it showed 3.3 mm-sized peri-membranous ventricular septal defect (B) and 2.4 mm-sized secundum atrial septal defect (C).

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  Fig. 3 On enhanced chest computed tomogram image of the patient on 6th day after birth, it showed pneumonia and congenital emphysema. (A) In transverse view, it showed an air space consolidation and a ground glass opacity in dependent portion of both lower lobes (black arrows). (B) In coronal view, it showed a multiseptated wall cystic emphysematous lesion in posterior segment of right upper lobe (black arrowhead).

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  Fig. 4 Cytogenetic microarray reveals chromosome 5q35.3 gain.

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