LATERAL MENINGOCELE SYNDROME - 3 NEW PATIENTS AND REVIEW OF THE LITERATURE

Citation
Kw. Gripp et al., LATERAL MENINGOCELE SYNDROME - 3 NEW PATIENTS AND REVIEW OF THE LITERATURE, American journal of medical genetics, 70(3), 1997, pp. 229-239
Citations number
11
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
70
Issue
3
Year of publication
1997
Pages
229 - 239
Database
ISI
SICI code
0148-7299(1997)70:3<229:LMS-3N>2.0.ZU;2-P
Abstract
One female and two male patients with multiple lateral meningoceles ar e presented, They do not have neurofibromatosis or Marfan syndrome and share findings with the two previously described patients with multip le lateral meningoceles, The original report by Lehman et al, [1977: J Pediatr 90:49-54] was titled ''familial osteosclerosis,'' because ost eosclerosis was present in the proposita and her mother; the patient d escribed by Philip et al, [1995: Clin Dysmorphol 4:347-351] also had i ncreased bone density of the skull base and the sutures, Thickened cal varia were present in one of our patients; two had a prominent metopic suture, Other shared findings include multiple lateral meningoceles, Wormian bones, malar hypoplasia, downslanted palpebral fissures, a hig h narrow palate, and cryptorchidism in males, In addition, our patient s showed ligamentous laxity, keloid formation, hypotonia, and developm ental delay, A short umbilical cord was noted in two patients, One had a hypoplastic posterior arch of the atlas and an enlarged sella, as r eported by Lehman et al, [1977], Our patients appear to have the same syndrome as previously reported, We suggest it be called ''lateral men ingocele syndrome,'' because of this unique finding. (C) 1997 Wiley-Li ss, Inc.