PDF(Pubmed)
Abstract：
BACKGROUND: The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process.
METHODS: Six girls (aged 6-month-8 years) and two older girls (aged 13 and 16 years) were born with variable skin lesions of varying intensities associated with noticeable cranial and skeletal malformation complexes. Cleft palate, abnormal dentition, and multiple papillomas were evident around the mouth, mostly bilateral but asymmetrical in the upper and lower limbs. Exaggerated frontal bossing (macrocephaly) and in some patients\' microcephaly with variable skeletal defects of the craniocervical junction and diverse forms of lower limb deformities of syndactyly, polydactyly, and split-hand/foot (ectrodactyly).
RESULTS: All patients manifested the constellation of abnormalities with variable intensities ranging between alopecia, papillomas, striated skin pigmentations split-hand/foot (ectrodactyly), and major bone defects. A 3D reconstruction CT scan was directed mainly to further scrutinize children with pseudo cleft lip, submucus cleft, and cleft palate. Interstingly, they manifested massive demineralization of the cranium associated with severely defective dentition. A spine 3D reconstruction CT scan in two girls showed marked cystic cavitation of the upper jaw associated with excessive cavitation of the mastoid, causing tremendous frailty of the mastoid bone. A 3D sagittal CT scan showed odontoid hypoplasia and C1-2 instability associated with the rudimentary atlas and the persistence of extensive synchondrosis of the cervico-thoracic spine. The overall clinical and radiological phenotypic characterizations were consistent with the diagnosis of focal dermal hypoplasia (Goltz syndrome). Two children manifested heterozygous mutations in the PORCN gene, chromosome Xp11.
CONCLUSIONS: In this study, we believe it\'s a good opportunity to share our novel scientific findings, which are intriguing and can be inspiring to readers, and to further aid the current scientific literature with exceptionally new unveiling results. This is the first comprehensive study of the cranio-skeletal malformation complex in children with GS.
METHODS: Six girls (aged 6-month-8 years) and two older girls (aged 13 and 16 years) were born with variable skin lesions of varying intensities associated with noticeable cranial and skeletal malformation complexes. Cleft palate, abnormal dentition, and multiple papillomas were evident around the mouth, mostly bilateral but asymmetrical in the upper and lower limbs. Exaggerated frontal bossing (macrocephaly) and in some patients\' microcephaly with variable skeletal defects of the craniocervical junction and diverse forms of lower limb deformities of syndactyly, polydactyly, and split-hand/foot (ectrodactyly).
RESULTS: All patients manifested the constellation of abnormalities with variable intensities ranging between alopecia, papillomas, striated skin pigmentations split-hand/foot (ectrodactyly), and major bone defects. A 3D reconstruction CT scan was directed mainly to further scrutinize children with pseudo cleft lip, submucus cleft, and cleft palate. Interstingly, they manifested massive demineralization of the cranium associated with severely defective dentition. A spine 3D reconstruction CT scan in two girls showed marked cystic cavitation of the upper jaw associated with excessive cavitation of the mastoid, causing tremendous frailty of the mastoid bone. A 3D sagittal CT scan showed odontoid hypoplasia and C1-2 instability associated with the rudimentary atlas and the persistence of extensive synchondrosis of the cervico-thoracic spine. The overall clinical and radiological phenotypic characterizations were consistent with the diagnosis of focal dermal hypoplasia (Goltz syndrome). Two children manifested heterozygous mutations in the PORCN gene, chromosome Xp11.
CONCLUSIONS: In this study, we believe it\'s a good opportunity to share our novel scientific findings, which are intriguing and can be inspiring to readers, and to further aid the current scientific literature with exceptionally new unveiling results. This is the first comprehensive study of the cranio-skeletal malformation complex in children with GS.
摘要：
背景：对表现出一系列外胚层异常的儿童和成人的诊断过程需要一个认真且高度结构化的过程。
方法：六个女孩（6个月至8岁）和两个年龄较大的女孩（13岁和16岁）出生时皮肤损伤的强度不同，与明显的颅骨畸形复合体相关。腭裂,牙列异常,口腔周围可见多发性乳头状瘤，大多为双侧，但在上肢和下肢不对称。严重的额叶突出症（大头畸形），在某些患者中，小头畸形伴有颅颈交界处的骨骼缺陷和各种形式的下肢畸形，多指,和分开的手/脚（外翻）。
结果：所有患者都表现出异常的星座，其强度在脱发之间变化，乳头状瘤,有条纹的皮肤色素沉着-手/足（外翻），和严重的骨缺损。三维重建CT扫描主要是为了进一步检查假性唇裂儿童，粘液下裂隙,和腭裂.有趣的是,它们表现出与严重牙列缺陷相关的颅骨大量脱矿。两名女孩的脊柱三维重建CT扫描显示，上颌明显的囊性空化与乳突过度空化有关，导致乳突骨极度脆弱.3D矢状CT扫描显示齿状突发育不全和C1-2不稳定与基本的图谱以及颈胸椎广泛的软骨病的持续存在有关。总体临床和放射学表型特征与局灶性真皮发育不全（Goltz综合征）的诊断一致。两个孩子表现出PORCN基因的杂合突变，染色体Xp11。
结论：在这项研究中，我们相信这是一个很好的机会来分享我们的新的科学发现，这很有趣，可以激励读者，并以异常新的揭幕结果进一步帮助当前的科学文献。这是对GS儿童颅骨畸形复合体的首次全面研究。
方法：六个女孩（6个月至8岁）和两个年龄较大的女孩（13岁和16岁）出生时皮肤损伤的强度不同，与明显的颅骨畸形复合体相关。腭裂,牙列异常,口腔周围可见多发性乳头状瘤，大多为双侧，但在上肢和下肢不对称。严重的额叶突出症（大头畸形），在某些患者中，小头畸形伴有颅颈交界处的骨骼缺陷和各种形式的下肢畸形，多指,和分开的手/脚（外翻）。
结果：所有患者都表现出异常的星座，其强度在脱发之间变化，乳头状瘤,有条纹的皮肤色素沉着-手/足（外翻），和严重的骨缺损。三维重建CT扫描主要是为了进一步检查假性唇裂儿童，粘液下裂隙,和腭裂.有趣的是,它们表现出与严重牙列缺陷相关的颅骨大量脱矿。两名女孩的脊柱三维重建CT扫描显示，上颌明显的囊性空化与乳突过度空化有关，导致乳突骨极度脆弱.3D矢状CT扫描显示齿状突发育不全和C1-2不稳定与基本的图谱以及颈胸椎广泛的软骨病的持续存在有关。总体临床和放射学表型特征与局灶性真皮发育不全（Goltz综合征）的诊断一致。两个孩子表现出PORCN基因的杂合突变，染色体Xp11。
结论：在这项研究中，我们相信这是一个很好的机会来分享我们的新的科学发现，这很有趣，可以激励读者，并以异常新的揭幕结果进一步帮助当前的科学文献。这是对GS儿童颅骨畸形复合体的首次全面研究。
