A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.

Abstract

We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the kyphoscoliosis type Ehlers-Danlos syndrome (EDS) but without lysyl hydroxylase deficiency [Kosho et al. (2005) Am J Med Genet Part A 138A:282-287]. After observations of them over time and encounter with four additional unrelated patients, we have concluded that they represent a new clinically recognizable type of EDS with distinct craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. The patients exhibited strikingly similar features according to their age: craniofacial, large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin vermilion of the upper lip, small mouth, and micro-retrognathia in infancy; slender and asymmetric face with protruding jaw from adolescence; skeletal, congenital contractures of fingers, wrists, and hips, and talipes equinovarus with anomalous insertions of flexor muscles; progressive joint laxity with recurrent dislocations; slender and/or cylindrical fingers and progressive talipes valgus and cavum or planus, with diaphyseal narrowing of phalanges, metacarpals, and metatarsals; pectus deformities; scoliosis or kyphoscoliosis with decreased physiological curvatures of thoracic spines and tall vertebrae; cutaneous, progressive hyperextensibility, bruisability, and fragility with atrophic scars; fine palmar creases in childhood to acrogeria-like prominent wrinkles in adulthood, recurrent subcutaneous infections with fistula formation; cardiovascular, cardiac valve abnormalities, recurrent large subcutaneous hematomas from childhood; gastrointestinal, constipation, diverticula perforation; respiratory, (hemo)pneumothorax; and ophthalmological, strabismus, glaucoma, refractive errors.

• Authors: Tomoki Kosho, Noriko Miyake, Atsushi Hatamochi, Jun Takahashi, Hiroyuki Kato, Teruyoshi Miyahara, Yasuhiko Igawa, Hiroshi Yasui, Tadao Ishida, Kurahito Ono, Takashi Kosuda, Akihiko Inoue, Mohei Kohyama, Tadashi Hattori, Hirofumi Ohashi, Gen Nishimura, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima, Naomichi Matsumoto
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 152A Issue 6 Pg. 1333-46 (Jun 2010) ISSN: 1552-4833 [Electronic] United States
• PMID: 20503305 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2010 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (classification, diagnosis, genetics)
• Adolescent
• Adult
• Child, Preschool
• Contracture (classification, diagnosis, genetics)
• Craniofacial Abnormalities (classification, diagnosis, genetics)
• Ehlers-Danlos Syndrome (classification, diagnosis, genetics)
• Female
• Humans
• Japan
• Joints (abnormalities)
• Male
• Skin Abnormalities (classification, diagnosis, genetics)
• Young Adult