A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Multiple Congenital Contractures, Progressive Joint and Skin Laxity, and Multisystem Fragility-Related Manifestations

作者：Kosho Tomoki^*; Miyake Noriko; Hatamochi Atsushi; Takahashi Jun; Kato Hiroyuki; Miyahara Teruyoshi; Igawa Yasuhiko; Yasui Hiroshi; Ishida Tadao; Ono Kurahito; Kosuda Takashi; Inoue Akihiko; Kohyama Mohei; Hattori Tadashi; Ohashi Hirofumi; Nishimura Gen; Kawamura Rie; Wakui Keiko; Fukushima Yoshimitsu; Matsumoto Naomichi

来源：American Journal of Medical Genetics, Part A, 2010, 152A(6): 1333-1346.

DOI：10.1002/ajmg.a.33498

• a new type Ehlers-Danlos syndrome
• craniofacial characteristics
• multiple congenital contractures
• joint laxity
• talipes deformities
• kyphoscoliosis
• skin laxity
• multisystem fragility
• recurrent subcutaneous hematomas

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.

• 出版日期2010-6