A Case of Pfeiffer Syndrome

Park, Moon Sung; Yoo, Jae Eon; Chung, Jaiho; Yoon, Soo Han

doi:10.3346/jkms.2006.21.2.374

Cited by 15 publications

(12 citation statements)

References 22 publications

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“…Th e prenatal diagnosis of cranial deformities (Park et al 1996) is associated with diverse syndromes: a strawberry-shaped cranium is associated with trisomy 18 (T18); a lemon-shaped cranium with neural tube defects; frontal prominence with achondroplasia and the Russell -Silver syndrome; trigonocephaly with Jacobsen syndrome; brachycephaly with trisomy 21 (T21); chondrodysplasia, the Cornelia de Lange syndrome and cranial asymmetry with amniotic band syndrome and the Wolf -Hirschhorn syndrome. A cloverleaf-shaped cranium is present in thanatophoric dysplasia (not associated with craniosynostosis); or syndromes that indeed are associated with craniosynostosis such as Apert, Carpenter, Crouzon, Jackson Weiss and Pfeiff er syndromes (Benacerraf et al 2000).…”

Section: Discussionmentioning

confidence: 99%

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Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks’ gestation

Gómez-Gómez

Fernández-Alonso

Moreno-Ortega

et al. 2013

Journal of Obstetrics and Gynaecology

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We describe the antenatal and intrapartum care of a 21-year-old nulliparous patient with a known prominent Chiari network.At 19 years of age, this patient was referred to cardiologists with symptoms of inappropriate tachycardia in response to exercise and intermittent nocturnal breathlessness. ECHO revealed a large mobile fi lamentous structure in the right atrium, prolapsing through the tricuspid valve. A diagnosis of a prominent Chiari network was made. Aft er a normal exercise stress test, she was discharged from the clinic. No further investigations or follow-up were arranged. Th e patient booked with the maternity department at 11 weeks ' gestation. All baseline observations and investigations were normal. Fetal anomaly scan showed no abnormalities and growth was on the 50th centile. However, given the patient ' s diagnosis of Chiari network, consultant-led care was preferred.A cardiology opinion was sought. No concerns were raised by the department and no special recommendations for pregnancy or delivery were made.Th e pregnancy progressed well. Th e patient presented in spontaneous labour at term and laboured to full dilatation, but aft er failure to deliver following 1 hour of pushing, assisted delivery was required. A live female infant was delivered with Ventouse. Apgars were 9 and 10; weight 3,760 g. Observations remained stable throughout delivery.Th e woman made an uneventful postpartum recovery, and was discharged home the next day with her baby.

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Section: Discussionmentioning

confidence: 99%

“…Pfeiff er syndrome was fi rst described by Pfeiff er in 1964 (Park et al 1996) and then by Cohen in 1993, based on phenotype severity, describing three types: Type I, Type II and Type III. Type I is associ- ated with mild manifestations, having normal neurological development and a good prognosis.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks’ gestation

Gómez-Gómez

Fernández-Alonso

Moreno-Ortega

et al. 2013

Journal of Obstetrics and Gynaecology

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“…It has also been reported that cases with Type 1 PS have good prognosis. Patients with Type 2 and Type 3 prognosis have reported early death in spite of aggressive medical and surgical treatment [1]. Our case was Type 1 PS and the clinical findings were relatively acceptable in comparison with other types.…”

Section: Discussionmentioning

confidence: 53%

“…Pfeiffer's syndrome (PS) is a rare, autosomal dominant, variableseverity acrocephalic skull characterized by Pfeiffer in 1964, characterized by a declined midface, hands and feet, and large thumb and large foot syndactyly [1]. PS is characterized by the appearance of skull and leg anomalies in eight individuals from three quadrants [2].…”

Section: Introductionmentioning

confidence: 99%

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Pfeiffer Syndrome Type 1: A Case Report

GE¹,

Koray²

2018

IJDOS

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Radiographic Manifestations in Pfeiffer Syndrome

Al-Adba

Tse

2015

Arthritis & Rheumatology

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The patient, a 14-year-old boy with type 1 Pfeiffer syndrome and a 2-month history of pain in the fourth finger of his left hand, was referred to the rheumatology clinic. The patient presented at birth with craniosynostosis, hypertelorism, and brachydactyly. The geneticists diagnosed Pfeiffer syndrome, and gene testing confirmed a mutation in fibroblast growth factor receptor 1. His clinical history and disease course included hearing loss, initial speech delay (now resolved), dental problems, and malocclusion. In addition to his symptoms of finger pain, he also had intermittent subluxation of his left elbow and both shoulders due to congenital dislocations. Excluding joint pain, the patient denied any other symptoms of inflammatory arthritis. There was no family history of rheumatoid arthritis, ankylosing spondylitis, juvenile idiopathic arthritis, or psoriasis. The musculoskeletal physical examination was remarkable for short broad fingers and toes, decreased range of motion in both the first and second digits, and decreased range of motion in both elbows and shoulders. Radiographs of two views of the hands and wrists showed partial fusion at the first interphalangeal joints bilaterally and the second proximal interphalangeal (PIP) joint of the left hand. The second PIP joint of the right hand was completely fused. The proximal phalanges of the thumb and the middle phalanges of the second and fourth fingers were shortened bilaterally. Both thumbs were radially deviated. The metacarpal heads of both hands also appeared slightly diminutive. There was widening at the distal radioulnar joints, with the ulna appearing abnormally rotated on the frontal view bilaterally, which indicates instability at the radioulnar joint. Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that affects 1 in 100,000 persons. The syndrome is a result of mutations in fibroblast growth factor receptors 1 or 2 leading to gain-of-function altered cell differentiation, including bone cells. There is no association with an inflammatory or autoimmune mechanism. Musculoskeletal involvement in Pfeiffer syndrome is commonly associated with craniosynostosis, maxillary hypoplasia, broad and deviated thumbs and great toes, and partial syndactyly of the hands and feet in addition to joint fusion and ankylosis of small and large joints. The diagnosis of Pfeiffer syndrome is essentially clinical, but radiologic exploration can confirm the associated skeletal abnormalities (1-3). This patient was referred to the rheumatology clinic in order to rule out arthritis. Clinical examination did not reveal the typical findings of inflammatory arthritis but only the musculoskeletal findings described above. Although radiology provided no explanation for the pain in the fourth finger of his left hand, this digit may be in the early stages and a new site for bone formation and ultimate fusion. Serial radiographs can be helpful to document disease progression. Because the process is noninflammatory in nature, magnetic resonance imaging is not indi...

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A Case of Pfeiffer Syndrome

Cited by 15 publications

References 22 publications

Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks’ gestation

Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks’ gestation

Pfeiffer Syndrome Type 1: A Case Report

Radiographic Manifestations in Pfeiffer Syndrome

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