Lajeunie E, Le Merrer M, Arnaud E, Marchac D, Renier D
Inserm U393, hôpital Necker-Enfants-Malades, Paris, France.
Arch Pediatr. 1998 Aug;5(8):873-9. doi: 10.1016/s0929-693x(98)80130-9.
From a series of 1,833 patients with craniosynostosis, 278 cases with metopic synostosis were analysed. The prevalence of metopic synostosis was estimated in the region of 1 in 15,000 children.
All patients with metopic suture fusion were selected, excluding cases where additional sutures were involved. The age at diagnosis was between 15 days and 15 years. The diagnosis was based on clinical and radiological evaluation. The search for associated malformations was based on clinical evaluation, CT or MRI scans, bone X-rays and ultrasounds. If possible, a study of the karyotype was performed in case of associated malformation. Family information was obtained through contact with the families, generally in person or sometimes by telephone. The series was divided into three groups: isolated trigonocephaly (group 1), trigonocephaly associated with other malformations without any known syndrome (group 2) and well delineated syndromes (group 3).
There were 213 males and 65 females, a sex ratio of 3.3. Family information was obtained from 222 probands distributed among 216 families. There was no maternal or paternal age effect. The frequency of twinning was 7.9%, with three concordances for metopic synostosis in three monozygotic twin pairs. A positive family history was obtained in 13 of the 216 pedigrees, giving a 6% figure of familial cases. A vertical transmission was observed in only one case; in all other cases, there were two affected children with normal parents. Eleven familial cases were isolated trigonocephalies, and two were syndromic. Nine of the 53 available karyotypes were abnormal, involving the chromosomes 7, 9, 11 or 13. There were 208 observations in the group 1. In 53 cases (group 2), associated malformations involved mainly the heart (12 cases), the limbs (six cases), the brain (five cases) and the genito-urinary tract (four cases). These malformations were unique in 32 cases and multiple in 21 cases. Some: of the observations could represent new syndromes. Seventeen syndromes represented group 3. Nine were chromosomal syndromes. Eleven presented with multiple malformations. An in utero exposure to valproic acid was observed in two cases of the group 1, five cases of the group 2 and one case of the group 3.
在1833例颅缝早闭患者中，分析了278例额缝早闭病例。额缝早闭的患病率估计约为每15000名儿童中有1例。
选取所有单纯额缝融合的患者，排除合并其他缝线受累的病例。诊断时年龄在15天至15岁之间。诊断基于临床和影像学评估。通过临床评估、CT或MRI扫描、骨骼X线和超声检查来查找相关畸形。如有可能，对于合并畸形的病例进行核型分析。通过与家属联系获取家族信息，通常是亲自联系，有时通过电话联系。该系列分为三组：孤立性三角头畸形（第1组）、与其他畸形相关但无任何已知综合征的三角头畸形（第2组）和明确的综合征（第3组）。
男性213例，女性65例，性别比为3.3。从分布在216个家庭中的222名先证者那里获取了家族信息。未发现母亲或父亲年龄效应。双胎发生率为7.9%，在3对单卵双胎中有3例额缝早闭一致。在216个家系中有13个有阳性家族史，家族性病例占6%。仅1例观察到垂直遗传；在所有其他病例中，有两个患病儿童，其父母正常。11例家族性病例为孤立性三角头畸形，2例为综合征性。53份可用核型中有9份异常，涉及7号、9号、11号或13号染色体。第1组有208例观察病例。在53例（第2组）中，相关畸形主要累及心脏（12例）、四肢（6例）、脑（五例）和泌尿生殖道（4例）。这些畸形在32例中为单一畸形，21例为多种畸形。其中一些观察结果可能代表新的综合征。17种综合征属于第3组。9种为染色体综合征。11种表现为多种畸形。在第1组的2例、第2组的5例和第3组的1例中观察到宫内暴露于丙戊酸。
