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
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.