Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature

Hamouda, H. Ben; Tlili, Y; Ghanmi, S.; Soua, H.; Jerbi, S.; Souissi, M; Hamza, H.A.; Sfar, Mohamed Tahar

doi:10.1016/j.diii.2012.06.002

Cited by 6 publications

(15 citation statements)

References 11 publications

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“…Most reported cases of PS without craniosynostosis have a FGFR1 gene mutation . In addition to our 2 cases with FGFR2 mutations without prenatal craniosynostosis, we identified 1 case of PS with FGFR2 mutation reported without craniosynostosis at 18 and 20 WG and with onset of cloverleaf skull at 36 WG. In our case , no craniosynostosis was identified on postmortem examination (autopsy and imaging), performed at 35 WG.…”

Section: Discussionsupporting

confidence: 50%

“…Anomalies of the thumbs and big toes are, with craniosynostosis, major diagnostic clues for PS. This can include syndactyly, as in one of our cases, but this is not a common finding and was only found in 4 or 23 cases reviewed in the literature …”

Section: Discussionmentioning

confidence: 59%

“…Diagnosis in our series was made around 22–23 WG which is earlier than the mean gestational age of 27 weeks reported in the literature at which PS is suspected on prenatal US . In “classical” cases with a cloverleaf skull and abnormal extremities the diagnosis of PS has been reported as early as 18 and 20 WG …”

Section: Discussionmentioning

confidence: 63%

“…This can include syndactyly, as in one of our cases, but this is not a common finding and was only found in 4 or 23 cases reviewed in the literature. 9,[11][12][13] Other craniosynostosis syndromes such as Apert, Crouzon, and Jackson-Weiss syndromes 11 should be considered following the detection of fused sutures and digital anomalies, but with the finding of adducted broad thumbs on prenatal imaging, the diagnosis of PS is more likely as with 3 out of our 4 fetuses (Table 1). The other unusual finding in 2 of our cases was the proximal phalanges of thumbs and big toes that were trapezoidal, which is also called a delta phalanx or delta bone.…”

Section: What Does This Study Add?mentioning

confidence: 99%

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Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis

et al. 2018

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Section: Discussionsupporting

confidence: 50%

Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 63%

Section: What Does This Study Add?mentioning

confidence: 99%

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Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis

et al. 2018

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“…While Pfeiffer syndrome type I is compatible with life and has a normal intellectual development, Pfeiffer syndrome type II and type III are associated with poor prognosis (early death or psychomotor and mental retardation in survival) [45], molecular diagnosis is fundamental for genetic counselling [46] and antenatal management. In surviving infants, improvement in intellectual development following cranioplasty has been reported in only one case [47].…”

Section: Pfeiffer Syndromementioning

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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Minimally Invasive Hallux Interphalangeal Joint Arthrodesis for Hallux Varus in Pfeiffer Syndrome: A Case Report

Flora¹,

Diniz²,

Neto³

et al. 2018

The Journal of Foot and Ankle Surgery

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Pfeiffer syndrome is a rare hereditary condition with an autosomal dominant transmission caused by a mutation that affects fibroblast growth factor receptors. It is one of the acrocephalosyndactyly diseases causing cranial malformations owing to early suture fusion. In the foot, it is typically associated with hallux varus, first ray hyperplasia, and partial lesser digit syndactyly. We report a clinical case of a 10-year-old patient with Pfeiffer type I syndrome with bilateral severe hallux varus due to a hypoplastic trapezoidal shaped proximal phalanx, a distal, medial-facing articular surface, and interphalangeal instability. This deformity was addressed by minimally invasive hallux interphalangeal joint arthrodesis with internal and external fixation. We report the results at the 2-year follow-up point.

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Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature

Cited by 6 publications

References 11 publications

Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis

Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis

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

Minimally Invasive Hallux Interphalangeal Joint Arthrodesis for Hallux Varus in Pfeiffer Syndrome: A Case Report

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