We report an 8-year-old proband with severe motor and intellectual disability presenting a variety of dysmorphic features such as microcephaly, prominent glabella (ridged metopic suture) and congenital distal limb contractures. As well as panhypopituitary insufficiency, brain defects, e.g. agenesis of corpus callosum, colpocephaly, and pachygyria as well as strabismus and tracheo-laryngeal hypo...

Nasal gliomas (nasal glial heterotopia) are rare benign congenital frontonasal lesions occurring in approximately 1:20.000-40,000 live births. The diagnosis is rarely reported prenatally. Nasal gliomas are typically isolated lesions, with syndromic association being exceedingly rare. Metopic craniosynostosis can occur as an isolated abnormality or in association with multiple syndromes. This ca...

Four infants who were exposed to sodium valproate or valproic acid during pregnancy are described. Common facial features in the three surviving infants include epicanthic folds, a flat nasal bridge, a broad nasal base, anteverted nostrils, a shallow philtrum, and a thin upper lip with a thick lower lip. Ridging of the metopic suture, congenital heart defect, postaxial polydactyly, and hypospad...

To examine a relation of angles among the coronal, sagittal and lambdoid sutures to the size of the calvaria as well as to the remains of the metopic suture, 158 adult Japanese calvae or calottes were observed. The calvae used consisted of four groups: group M composed of 74 male calvae without the metopic suture; group F, of 41 female calvae without the same suture; group Un, of 27 sex-unknown...

We report a case of partial deletion of 9p with partial trisomy of 1q42 syndrome, which is a rare clinical and cytogenetic report. The dysmorphic features of the patient include microcephaly, plagiocephaly, trigonocephaly with metopic ridge, arched eyebrows, hypertelorism, down-slanting palpebral fissure, ptosis, blepharophimosis, unilateral left epicanthic fold, long eyelashes, low-set and pos...

AIM Barrel stave osteotomy is a widely used procedure in neurosurgery for the majority of craniosynostosis patients. Both in the intraoperative and postoperative periods, there is inevitable leakage type bleeding from the bones undergoing osteotomy. A number of studies have been performed in order to prevent this complication but a concise procedure is still lacking. MATERIAL AND METHODS Syno...

OBJECTIVE To investigate the development of the metopic suture in fetuses with holoprosencephaly at 11 + 0 to 13 + 6 weeks of gestation. METHODS Three-dimensional (3D) ultrasound was used to measure the height and gap between the frontal bones in 200 normal fetuses and in nine fetuses with holoprosencephaly at 11 + 0 to 13 + 6 (median, 12) weeks of gestation. RESULTS In the 200 normal fetus...