Nervous system involvement in Pfeiffer syndrome

Mavridis, Ioannis N.; Rodrigues, Desiderio

doi:10.1007/s00381-020-04934-7

Cited by 8 publications

(3 citation statements)

References 47 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…1A). Actually, hydrocephalus is often associated with FGFR2-induced CS, with a rate of 9% to 17%in Crouzon and 28% to 64% in Pfeiffers, 3,11,12 however, due to the small number of Pfeiffers patients in this study, the data does not have statistical significance. Among the patients with Apert syndrome, although 6 in 9 have an EI >0.3, indicating ventricular enlargement, none of them exhibit significant symptoms of increased intracranial pressure (Fig.…”

Section: Discussionmentioning

confidence: 58%

Incidence of Ventriculomegaly in Patients With Craniosynostosis

Liu,

Li,

Zhang

et al. 2023

Journal of Craniofacial Surgery

View full text Add to dashboard Cite

Hydrocephalus is variously associated with syndromic craniosynostosis (CS), while it is randomly encountered in nonsyndromic CS. But actually, the ventriculomegaly in CS is less described. In this study, the authors aim to establish whether ventriculomegaly is common in patients with CS, in both syndromic and nonsyndromic. Retrospective measurements of Evans index (EI) were taken from thin-section computed tomography scans of 169 preoperative CS patients to assess cerebral ventricular volume. EI >0.3 indicates ventricular enlargement. A total of 169 CS patients who underwent computed tomography scan from February 2018 to December 2021 were retrospectively evaluated, including 114 males and 55 females. The average age at diagnosis was 16 months (range: 1–103 mo). Among them, 37 with syndromic CS, including 17 ventricular megaly patients, had an EI >0.3 (46.0%), and 4 of them had intracranial hypertension and needed ventriculoperitoneal shunt treatment before cranial vault remolding. One hundred and thirty-two had nonsyndromic CS (100 single-suture CS, 32 multisuture CS), and 26 of them had an EI of 0.3 or greater (19.7%). Ventrocular megaly is common among patients with CS. Early craniotomy may stabilize ventricular dilation.

show abstract

Section: Discussionmentioning

confidence: 58%

Incidence of Ventriculomegaly in Patients With Craniosynostosis

Liu,

Li,

Zhang

et al. 2023

Journal of Craniofacial Surgery

View full text Add to dashboard Cite

show abstract

“…The main distinguishing features of the three diseases are a grimacing smile and broad toes or fingers (14,15). Large toes or fingers are also a manifestation of Pfeiffer syndrome, which is related to the FGFR1 or FGFR2 genes and neural structural malformations (13,16). Moreover, Comelia de Lange and Floating-Harbour syndromes are also defined by intellectual deficits and other anomalies similar to RSTS; however, both are characterized by skeletal such as those of the ulna and skull (13).…”

Section: Discussionmentioning

confidence: 99%

Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Yang

Xiao²,

Ye³

et al. 2023

Front. Pediatr.

View full text Add to dashboard Cite

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominantly inherited disease characterized by slow mental and physical growth, skeletal abnormalities (broad thumbs and big toes), and dysmorphic facial features. RSTS is associated with de novo variants of the epigenetic-associated gene CREBBP. RSTS is primarily diagnosed based on clinical manifestations and genetic testing. Cutis marmorata telangiectatica congenita (CMTC) is a rare, congenital, and typically benign vascular anomaly of unknown etiology; it is described as persistent reticulated marbled erythema. The diagnosis of CMTC is largely based on clinical features, and GNA11 mutations are associated with CMTC. In this case report, we describe the case of a preterm infant (boy) with RSTS and CMTC who had a novel frameshift mutation leading to a premature stop codon in the CREBBP gene. This study adds the novel mutation c.5837dupC to the known molecular spectrum of disease-causing CREBBP gene mutations.

show abstract

“…Отличительной особенностью заболевания является сохранный интеллект, но его развитие зависит от своевременного лечения [10]. Если патология не обнаружена в неонатальном периоде, могут развиваться следующие неврологические нарушения: умственная отсталость, трудности в обучении, судороги [20]. Синостоз швов черепа становится причиной деформации головы и лица, повышения внутричерепного давления и сопутствующих этому признаков.…”

Section:  клинические проявленияunclassified

A Modern View of the Peculiarities of Managing Children with Pfeiffer Syndrome (A Literature Review)

Православная,

Саркисян,

Ворона

et al. 2023

Педиатрия. Восточная Европа

View full text Add to dashboard Cite

Синдром Пфайффера (СП, акроцефалосиндактилия типа V, Q87.0) – редкое наследственное заболевание с широким спектром клинических проявлений, относящееся к краниостенозам. Встречается у 1 из 100 000 новорожденных, не зависит от половой принадлежности или национальности. Проявляется гипертелоризмом и проптозом глаз, гипоплазией верхней челюсти, нарушением слуха, аномальным развитием конечностей и, в тяжелых случаях, нарушением нейропсихического развития. Снижение интеллекта часто связано с отсроченной постановкой диагноза. Предугадать рождение ребенка с СП возможно лишь в 50% случаев, в остальном – это результат мутации de novo. Решающим диагностическим мероприятием является проведение молекулярно-генетического тестирования и выявление дефектов в генах FGFR1 и/ или FGFR2. В мировой научной литературе в настоящее время недостаточно исследований, посвященных СП, с чем связаны трудности постановки диагноза и дальнейшее ведение пациентов. Лечение включает в себя хирургическую коррекцию существующих пороков и консервативную терапию нарушений со стороны внутренних органов и систем. Качество жизни пациентов с СП зависит от срока диагностики и обеспечения своевременной медицинской помощи. Pfeiffer syndrome (SP, acrocephalosyndactyly type V, Q87.0) is a rare hereditary disease with a wide range of clinical manifestations related to craniostenosis. It occurs in 1 in 100,000 newborns, regardless of gender or nationality. It is manifested by hypertelorism and proptosis of the eyes, hypoplasia of the upper jaw, hearing impairment, abnormal development of the limbs and, in severe cases, a violation of neuropsychic development. Decreased intelligence is often associated with delayed diagnosis. It is possible to predict the birth of a child with SP only in 50% of cases, otherwise it is the result of a de novo mutation. A crucial diagnostic measure is the conduct of molecular genetic testing and the detection of defects in the FGFR1 and/or FGFR2 genes. Currently, there are not enough studies on SP in the world scientific literature, which is why it is difficult to diagnose and further manage patients. Treatment includes surgical correction of existing defects and conservative therapy of organ lesions. The quality of life of patients with SP depends on early diagnosis and provision of timely medical care.

show abstract

Nervous system involvement in Pfeiffer syndrome

Cited by 8 publications

References 47 publications

Incidence of Ventriculomegaly in Patients With Craniosynostosis

Incidence of Ventriculomegaly in Patients With Craniosynostosis

Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

A Modern View of the Peculiarities of Managing Children with Pfeiffer Syndrome (A Literature Review)

Contact Info

Product

Resources

About