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Kim, An, Lee, and Oh: Ehlers-Danlos Syndrome in a Newborn Mistaken for Edwards Syndrome
Case report

Perinatology 2017;28(4):156-161.

Published online: 19 January 2017

DOI: https://doi.org/10.14734/PN.2017.28.04.156

Ehlers-Danlos Syndrome in a Newborn Mistaken for Edwards Syndrome

Sung Keun Kim, MD, Jin Wan An, MD, Seung Hyun Lee, MD, Yeon Kyun Oh, MD

Department of Pediatrics, Wonkwang University School of Medicine, Iksan, Korea

Correspondence to Seung Hyun Lee, MD Department of Pediatrics, Wonkwang University School of Medicine, 895 Muwang-ro, Iksan 54538, Korea Tel: +82-63-859-1510 Fax: +82-63-853-3670 E-mail: courteouslee@gmail.com

Received 1 November 201615 February 2017       Accepted 3 September 2017

Copyright © 2017 The Korean Society of Perinatology

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Ehlers-Danlos syndrome, Edwards syndrome, ADAMTS2

REFERENCES

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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
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
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
Fig. 4
Cytogenetic microarray reveals chromosome 5q35.3 gain.
pn-28-156f4.tif
Table 1.
Classification of EDS6
New Former OMIM Inheritance
Classical type Gravis (EDS type I) 130000 AD
  Mitis (EDS type II) 130010 AD
Hypermobility type Hypermobile (EDS type III) AD AD
Vascular type Arterial-ecchymotic (EDS type IV) 130020 AR
Kyphoscoliosis type Ocular-Scoliotic (EDS type VI) 130050 AD
Arthrochalasia type Arthrochalasis multiplex congenital (EDS type VIIA and VIIB) 225400 (229200) AR
Dermatosparaxis type Human dermatosparaxis (EDS type VIIC) 130060 XR
Other forms X-linked EDS (EDS type V) 225410 -
  Periodontitis type (EDS type VIII) 305200 AD
  Fibronectin-deficient EDS (EDS type X) 130080 ?
  Familial hypermobility syndrome (EDS type XI) 225310 AD
  Progeroid EDS 147900 ?
  Unspecified forms 130070 -

Abbreviations: EDS, Ehlers-Danlos syndrome; OMIM, online mendelian inheritance in man; AD, autosomal dominant; AR, autosomal recessive; XR, X-linked recessive.

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

Abbreviations: F, female; M, male.

∗ These journals quoted from reference 15.

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