pn Perinatology Perinatology 2508-4887 2508-4895 The Korean Society of Perinatology 10.14734/PN.2017.28.04.156 pn-28-156 Case report Ehlers-Danlos Syndrome in a Newborn Mistaken for Edwards Syndrome KimSung KeunMD AnJin WanMD LeeSeung HyunMD OhYeon KyunMD 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 012017 19012017 284156 161 01112016 15022017 03092017 Copyright © 2017 The Korean Society of Perinatology 2017 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.

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.

 Ehlers-Danlos syndrome Edwards syndrome ADAMTS2 REFERENCESKlaassens M Reinstein E Hilhorst-Hofstee Y Schrander JJ Malfait F Staal H Ehlers-Danlos arthrochalasia type (VIIA-B)—expanding the phenotype: from prenatal life through adulthood Clin Genet 201282 12130 Yen JL Lin SP Chen MR Niu DM Clinical features of Ehlers-Danlos syndrome J Formos Med Assoc 2006105 47580 Giunta C Superti-Furga A Spranger S Cole WG Steinmann B Ehlers-Danlos syndrome type VII: clinical features and molecular defects J Bone Joint Surg Am 199981 22538 Byers PH Duvic M Atkinson M Robinow M Smith LT Krane SM Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen Am J Med Genet 199772 94105 De Paepe A Malfait F The Ehlers-Danlos syndrome, a disorder with many faces Clin Genet 201282 111 Beighton P De Paepe A Steinmann B Tsipouras P Wenstrup RJ Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK) Am J Med Genet 199877 317 Wang WM Lee S Steiglitz BM Scott IC Lebares CC Allen ML Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase J Biol Chem 2003278 1954957 Malfait F De Coster P Hausser I van Essen AJ Franck P Colige A The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC) Am J Med Genet A 2004131 1828 Colige A Sieron AL Li SW Schwarze U Petty E Wertelecki W Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene Am J Hum Genet 199965 30817 Colige A Nuytinck L Hausser I van Essen AJ Thiry M Herens C Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene J Invest Dermatol 2004123 65663 Gage JP Shaw RM Moloney FB Collagen type in dysfunctional temporomandibular joint disks J Prosthet Dent 199574 51720 Fujimoto A Wilcox WR Cohn DH Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC Am J Med Genet 199768 258 Melis D Cappuccio G Ginocchio VM Minopoli G Valli M Corradi M Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? Ital J Pediatr 201238 65 Byers PH Murray ML Ehlers-Danlos syndrome: a showcase of conditions that lead to understanding matrix biology Matrix Biol 201433 105 Lee SY Park SH Choi HJ Yun SK Kim HU Ihm CW Type II and classical type Ehlers-Danlos syndrome: report of 3 cases & review of Korean cases Korean J Dermatol 200644 8348 Kim HS Choi CH Lee TH Kim SP Fusiform aneurysm presenting with cervical radiculopathy in Ehlers-Danlos syndrome J Korean Neurosurg Soc 201048 52831 Im JS Lim YH Park JS Lee SS Kim KM Rupture of abdominal aortic aneurysm after spine surgery in the patient with Ehlers-Danlos syndrome-a case report Korean J Anesthesiol 201058 5559 Kim UK Nam HM Park K Park SD Classic type Ehlers-Danlos syndrome with cutis laxa-like histopathologic findings Korean J Dermatol 201149 5248 Yoon YM Kim DC Kang MJ A case of vascular Ehlers-Danlos syndrome with novel mutation c.2931+2dupT in COL3A1 gene J Korean Soc Inherit Metab Dis 201414 16873 Figures and Tables

(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.

(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).

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).

Cytogenetic microarray reveals chromosome 5q35.3 gain.

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.

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.