Diaphragmatic hernia as an early ultrasound manifestation of Apert syndrome

Kosiński, Przemysław; Luterek, Katarzyna; Wielgoś, Mirosław

doi:10.5603/gp.2016.0097

Cited by 8 publications

(14 citation statements)

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“…Moreover, cardiovascular or central nervous system malformations such as atrial or ventricular septum defects or mild ventriculomegaly or agenesis of corpus callosum, respectively, may be visible in some fetuses with Apert syndrome before the pathognomonic skeletal changes are revealed. Even more atypical presentations, such as omphalocele or diaphragmatic hernia, have also been published 3. Therefore, although this syndrome is characterised by a specific set of malformations, the heterogeneity of clinical presentation and the difficulties in its early detection make the diagnosis a challenge 2…”

Section: Discussionmentioning

confidence: 99%

Apert syndrome: prenatal diagnosis challenge

et al. 2019

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Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can have throughout life, prenatal management becomes a challenge. A healthy 33-year-old woman, gravida 4, para 0, was referred to routine ultrasound at 22 weeks of gestation. Atypical cranial morphology with prominent forehead, ocular proptosis, hypertelorism and mitten hands were detected. Genetic investigation revealed an FGFR2 gene mutation (c.755C>G(p.Ser252Trp)), confirming the diagnosis. Magnetic resonance showed brachycephaly, turricephaly and cortical malformation. Following counselling, parents requested medical termination of pregnancy. Macroscopic features were consistent with ultrasound findings. This case emphasises the importance of early diagnosis to provide the best family counselling and prenatal management. A multidisciplinary team, consisting of an obstetrician with ultrasonography experience, a medical geneticist and a fetal pathologist, should conduct these cases.

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Section: Discussionmentioning

confidence: 99%

Apert syndrome: prenatal diagnosis challenge

et al. 2019

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“…Apert syndrome (AS) (OMIM 101200) was first described in 1906 by Dr. Eugene Apert, a French pediatrician, who designed it as acrocephalosyndactyly type I 2,3 . Craniosynostosis occurs in approximately 1/65,000 to 200,000 live births with Apert syndrome 2,[3][4][5] , which represents 3% of all craniosynostosis. This syndrome affects equally male and female patients 3,5 .…”

Section: Introductionmentioning

confidence: 99%

“…Two different types of mutations have been found on the fibroblast growth factor receptor-2 gene (FGFR2, OMIM 176943, NM_001144916.1) in several syndromic craniosynostoses, including AS. Inheritance pattern of AS is autosomal dominant, and over 98% of cases have de novo mutations [2][3][4][5][6][7] .…”

Section: Introductionmentioning

confidence: 99%

“…Clinical features of AS, including craniosynostosis 3 , are characterized by bilateral coronal suture fusion (acrocephaly) 2 with a diminished anteroposterior diameter, flat occiput 3 , and abnormal cranial base development 2 , prominent forehead, hyperteleorism 3,6 , downward sloping palpebral fissures 6 , proptosis 3,6 , strabismus 4 , depressed nasal bridge 3 , midface hypoplasia 3,4,6 , low-set ears 8 , a trapezoidal-shaped mouth 6 , prominent mandible 3 , high-arched or cleft palate 3 , bifid uvula 2 , delay in dentition, abnormal and crowded dentition 3,6 and pharynx defects frequently result in airway compromise 8 , symmetrical syndactyly of the hands and feet 3,5,6 , symphalangism and radio-humeral fusion. The multiple abnormalities of the central nervous alterations include hydrocephalus 2 , ventriculomegaly 2,4 , alterations of the septum pellucidum 2 , corpus callosum 2,4 , and limbic structures 2 . Additionally, cardiac, gastrointestinal, urogenital, vertebral anomalies 4 and short stature have been reported 4,5 .…”

Section: Introductionmentioning

confidence: 99%

“…The multiple abnormalities of the central nervous alterations include hydrocephalus 2 , ventriculomegaly 2,4 , alterations of the septum pellucidum 2 , corpus callosum 2,4 , and limbic structures 2 . Additionally, cardiac, gastrointestinal, urogenital, vertebral anomalies 4 and short stature have been reported 4,5 . Furthermore, psychomotor development may be delayed 3,6 , with variable degrees of neurocognitive impairment 2,8 ; blindness and hearing loss 6 can be observed.…”

Section: Introductionmentioning

confidence: 99%

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Hallazgos clínicos y genéticos de dos casos con síndrome de Apert

Cammarata‐Scalisi¹,

Yilmaz²,

Callea³

et al. 2019

BMHIM

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Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Casereport: Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present. In both patients, a heterozygous missense mutation (c.755C>G, p.Ser252Trp) in the FGFR2 gene was identified. Conclusions: Two cases of Apert syndrome are described. It is important to recognize this uncommon entity through clinical findings, highlight interdisciplinary medical evaluation, and provide timely genetic counseling for the family.

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