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.
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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.
![pn-28-156f1.tif](/upload/SynapseXML/1044pn/thumb/pn-28-156f1.gif)
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).
![pn-28-156f2.tif](/upload/SynapseXML/1044pn/thumb/pn-28-156f2.gif)
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).
![pn-28-156f3.tif](/upload/SynapseXML/1044pn/thumb/pn-28-156f3.gif)
Table 1.
Classification of EDS6
Table 2.
Summary of Ehlers-Danlos Syndrome Cases Reported in Korea under 20-Year Old Age15
Study | Sex | Age (years) | Type | Past history & major complication |
---|---|---|---|---|
Park et al. (1970)∗ | F | 1 | Arthrochalasia (VII) | Skin hyper extensiblity |
F | 8 | Arthrochalasia (VII) | Joint hypermobility | |
Congenital hip dislocation | ||||
Lee et al. (1980)∗ | F | 3 | Unknown | Velvety skin, Skin hyperextensibility |
Lee et al. (1985)∗ | M | 5 | Hypermobility (III) | Hypermobility of the joints, asymmetry of the thorax |
F | 3 | Hypermobility (III) | Waddling gait | |
Kim et al. (1994)∗ | F | 5 | Kyphoscoliosis (VI) | Oscillopsia, corneal opacity, blue sclera |
Ha et al. (2000)∗ | M | 19 | Classical (II) | Soft & velvety skin with marked hyperextensibility and hypermobile finger joint |
Lee et al. (2006)∗ | M | 19 | Classical (II) | Hyperextensibility of skin at the forearm, Hyperpigmented atrophic scars |
Kim et al. (2010)16 | M | 18 | Vascular (IV) | Tingling sensation in the neck and left shoulder, left upper extremity weakness |
C4/5 radiculopathy | ||||
Fusiform aneurysm | ||||
Im et al. (2010)17 | F | 15 | Kyphoscoloisis (VI) | Congenital scoliosis |
Kim et al. (2011)18 | M | 6 | Classical (II) | Hyperextensible skin, Cutis laxa |
M | 18 | Classical (II) | Hyperextensible skin, Cutis laxa | |
Yoon et al. (2014)19 | M | 16 | Vascular (IV) | Spontaneous colon perforation |
Rt. Thigh hematoma |