Diagnosis of Apert syndrome in the second‐trimester using 2D and 3D ultrasound

David, Anna L.; Turnbull, Clare; Scott, R. K.; Freeman, J.; Bilardo, C. M.; Maarle, Merel van; Chitty, Lyn S.

doi:10.1002/pd.1758

Cited by 46 publications

(34 citation statements)

References 9 publications

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“…Cranial sutures form very late (B16 weeks gestation) 46 compared with most other embryonic structures, therefore at the time when most routine ultrasound diagnosis is being undertaken (B20 weeks), insufficient time has elapsed for growth distortion of the skull to have occurred, except in the most severe cases. Although there have been a few reports of ultrasound diagnosis of craniosynostosis around this time, 47 the majority of even syndromic craniosynostosis is not detected during the pregnancy. When the issue is to screen for recurrence of craniosynostosis present in an older sibling, evidence of Apert syndrome can be sought by careful examination of the limbs for syndactyly.…”

Section: Prenatal Diagnosismentioning

confidence: 99%

Craniosynostosis

2011

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Section: Prenatal Diagnosismentioning

confidence: 99%

Craniosynostosis

2011

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“…(13) However, many cases of AS are not prenatally diagnosed until the third trimester when the craniofacial abnormalities are more obvious. (14) Prenatal ultrasonographic examination for early diagnosis was not available for the mothers of our two patients.…”

Section: Discussionmentioning

confidence: 99%

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients

Mundhofir¹,

Sistermans²,

Faradz³

et al. 2013

smedj

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C a s e R e p o r t e72 INTRODUCTIONApert syndrome (AS) is one of the most severe syndromic craniosynostosis syndromes.(1) It presents in utero with premature fusion of the cranial sutures (craniosynostosis) and severe symmetrical syndactyly of the hands and feet. Cerebral, cardiac, tracheal and genitourinary malformations may be present.Additional skeletal manifestations, acne lesions and intellectual disability are common.(2) AS has a reported prevalence of between 1:50,000 and 1:80,000, and the highest prevalence of AS has been reported in Asian populations.Over 300 cases have been reported since the syndrome was first described at the end of the 19th century.(4) AS shows autosomal dominant inheritance, but most cases are sporadic.It was established in 1995 that two mutations, p.Ser252Trp We report two patients with AS, in whom molecular analysis detected p.Ser252Trp and p.Pro253Arg mutations in the FGFR2 gene, respectively. This is the first report that details both clinically and molecularly diagnosed AS in Indonesia. CASE REPORTS Case 1Patient 1, a male baby born after an uneventful pregnancy to a healthy 34-year-old Javanese mother and a 35-year-old Javanese father, had no contributory family history. Delivery was byCaesarean section due to polyhydramnios at term, and the Apgar scores were 5, 7 and 8 at one, five and ten minutes, respectively. Birth weight was 3,300 g (50th centile), length was 50 cm (25th centile) and head circumference was 35 cm (25th centile). Physical examination at birth showed a brachycephalic skull, prominent forehead, midfacial hypoplasia, severe proptosis, downslanting palpebral fissures, low-set posteriorly rotated ears and high arched palate (Fig. 1). The anterior fontanel was 6 cm × 3 cm in diameter. The posterior fontanel was larger than the anterior fontanel, but the longest distance could not be measured due to the irregular shape. Widely spaced nipples, a systolic ejection murmur of grade III/6 and undescended testes were present. Bilateral, symmetrical cutaneous syndactyly, involving the second to fourth fingers, was present, and the thumbs were found to be broad. Both feet showed symmetrical cutaneous syndactyly of the first to fifth toes, as well as broad halluces.Cardiac ultrasonographic examination detected the presence of an atrial septal defect (ASD) that was 2 cm in diameter. Cerebral computed tomography revealed enlarged fontanels and a decreased anteroposterior diameter of the skull. The coronal and sagittal sutures were fused, but the lambdoid sutures were still patent. A clinical diagnosis of AS was made based on these findings. The patient died at 11 months of age due to severe pneumonia. Case 2Patient 2 was a three-month-old male baby born after an uneventful pregnancy to a healthy, nonconsanguineous 18-year-old ABSTRACT Apert syndrome (AS) is a rare autosomal dominant disorder characterised by craniosynostosis and limb malformations, and is associated with congenital heart disease and other systemic malformations, including intellectual disability. We report...

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“…3D ultrasound may also be useful in the evaluation of hand, feet and facial features, especially in syndromic cases [27,28]. Besides, it can improve parental counselling [29]. Reports on fetal magnetic resonance imaging (MRI) of craniosynostosis are rare in the literature; however MRI can be considered complimentary [30] to ultrasound and seems to have negative predictive value when synostosis is suspected on ultrasonography [15].…”

Section: Prenatal Diagnosismentioning

confidence: 99%

Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

et al. 2016

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Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes. The underlying etiology of nonsyndromic craniosynostosis is unknown. Mutations in the fibroblast growth factor (FGF) signalling pathway play a crucial role in the etiology of craniosynostosis syndromes. Prenatal ultrasound`s detection rate of craniosynostosis is low. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis. The presence of craniosynostosis may affect the birthing process. Fetuses with craniosynostosis also have higher rates of perinatal complications. In order to avoid the risks of untreated craniosynostosis, children are usually treated surgically soon after postnatal diagnosis.

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Diagnosis of Apert syndrome in the second‐trimester using 2D and 3D ultrasound

Cited by 46 publications

References 9 publications

Craniosynostosis

Craniosynostosis

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients

Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

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