Hereditary Apert Syndrome: Case Report and Literature Review

Case Presentation

Austin J Obstet Gynecol. 2016; 3(3): 1065.

Hereditary Apert Syndrome: Case Report and Literature Review

Naveiro-Fuentes M¹*, Carrillo-Badillo MP¹, Culiañez-Casas M², Malde-CondE FJ¹ and Puertas A¹

¹Department of Gynecology and Obstetrics, Virgen de las Nieves Universitary Hospital, Spain

²Department of Radiology, Virgen de las Nieves Universitary Hospital, Spain

*Corresponding author: Naveiro-Fuentes M, Department of Gynecology and Obstetrics, Virgen de las Nieves Universitary Hospital, Granada, Spain

Received: October 07, 2016; Accepted: December 12, 2016; Published: December 14, 2016

Abstract

Apert syndrome is a rare genetic disorder caused by a mutation in the FGFR2 gene, and which is part of a suite of syndromes characterized by craniosynostosis or premature fusion of the cranial coronal sutures. Inheritance is autosomal dominant, although the syndrome generally occurs as a result of a de novo mutation. Patients with Apert syndrome have acrocephaly frequently associated with central nervous system disorders and symmetric syndactyly in their hands and feet. A suspected diagnosis is often based on second trimester ultrasonographic images, although the definitive diagnosis requires genetic testing to identify the mutation. We discuss a case of hereditary Apert syndrome, its etiology, clinical characteristics and modes of intrauterine diagnosis.

Keywords: Acrocephalosyndactilia; Craniosynostosis; Fibroblast growth factor type 2 receptor; Pregnancy; Prenatal ultrasonography

Abbreviations

CNS: Central Nervous System; FGFR2: Fibroblastic Growth Factor 2 Receptor; MRI: Magnetic Resonance Imaging studies

Introduction

Apert syndrome, also termed type 1 acrocephalosyndactyly, is a congenital disorder of genetic origin with an estimated prevalence of 6.5 to 15.5 cases per million live births [1]. Clinically, the syndrome is characterized by craniofacial abnormalities consisting mainly of coronal suture synostosis and maxillary hypoplasia, with symmetrical syndactyly in the hands and feet in which the three central digits are fused. Central Nervous System (CNS) anomalies may also be present, such as ventriculomegaly or agenesis of the corpus callosum, which lead to intellectual disability in approximately half of the patients. Other less frequent anomalies are cardiovascular or urogenital malformations, fusion of the cervical vertebrae and cleft palate [2,3].

The mode of inheritance is autosomal dominant, although the great majority of cases described to date are sporadic and have been associated with older age of the father [1,2]. The origin lies in a mutation of the genes that encode fibroblastic growth factor 2 receptor (FGFR2), localized on the long arm of chromosome 10 [4].

We describe a fetus diagnosed in week 32 of gestation as having hereditary Apert syndrome whose father also had this disorder. The mother provided her informed consent in writing for publication of information about this case.

Case Presentation

The mother was a 27-year-old white woman with three healthy children from a previous relationship. She had not received routine obstetric care for the pregnancy described here until week 30 of gestation, when ultrasonographic examination disclosed suspected lobar holoprosencephaly and polyhydramnios. She was then referred to the Fetal Medicine Unit of the Virgen de las Nieves University Hospital (Granada, Spain).

Her current partner and putative father of the fetus was a 38-yearold white man with no consanguineous relationship with the mother. Physical examination showed a high, prominent forehead, flat occiput and hypertelorism, and fusion of the three central fingers of both hands. On questioning about these malformations, he reported that they were due to an unidentified congenital infection. He had no other known malformations and no apparent intellectual disability.

In an obstetric ultrasonographic examination done in week 32, notable findings were moderate polyhydramnios with a pocket larger than 12cm and abnormal features in the cranial anatomy consisting of flat occiput, depressed nasal bridge, prominent forehead and closure of the coronal suture (Figure 1a). Fusion of the anterior horns and mild bilateral colpocephaly (dilatation of the trigones and occipital horns) were also seen (Figure 1b). The morphological appearance of the posterior fossa was normal.