FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases.

Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the premature closure of their cranial sutures and associated facial and extra-cranial features. Their clinical complexity demands comprehensive management by an extensive multidisciplinary team.

The midface is hypoplastic. This, together with the retrusion, causes exorbitism. Complex syndactyly of the hands and feet is present. It is symmetric, and other limb anomalies (eg, shortening)...

2023年6月1日 · Describe the pathophysiology of Apert syndrome. Review the physical features of Apert syndrome. Outline the treatment and management options available for Apert syndrome. Explain interprofessional team strategies for improving care coordination and communication to advance the treatment of Apert syndrome and improve outcomes.

The syndrome is characterized by craniosynostosis, foot anomalies (broad great toes with medial deviation, broad short metatarsals, broad proximal phalanges, partial cutaneous syndactyly of second and third toes, and tarsal-metatarsal coalescence), normal thumbs, hypertelorism, proptosis, and midface hypoplasia [Jabs et al., 1994; Heike et al ...

2000年12月1日 · This article discusses the genetics, presentation, and management of syndromic craniosynostoses and their associated midfacial hypoplasia. The most common craniofacial synostosis syndromes are Apert's syndrome, Crouzon's syndrome, Pfeiffer's syndrome, Saethre-Chotzen syndrome, and Carpenter's syndrome.

Craniosynostosis, defined as the premature fusion of 1 or more cranial sutures, occurs in 1 in 2000 to 2500 live births and is one of the most common congenital craniofacial anomalies.1–3 Lack of growth perpendicular to the fused sutures and compensatory growth at normal ones result4–6 in patients presenting with a distorted head shape.

Syndactyly is one of the most common upper limb congenital anomalies, occurring either as alone or in association with other abnormalities. Several multiple malformation syndromes where hand and/or foot syndactyly are present have been described in the scientific literature.

2022年1月17日 · Syndromic craniosynostosis, a clinically and genetically heterogeneous congenital anomaly, is a generalized disorder of mesenchymal development. Although rare in general population, syndromes like Crouzon, Apert, Pfeiffer, Saethre-Chotzen, and Muenke are not infrequent in neurosurgical practice.

2020年2月18日 · Craniosynostosis, defined as the premature fusion of 1 or more cranial sutures, occurs in 1 in 2000 to 2500 live births and is one of the most common congenital craniofacial anomalies. 1–3 Lack of growth perpendicular to the fused sutures and compensatory growth at normal ones result 4–6 in patients presenting with a distorted head shape.