Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity. The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported. We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation. DNA analysis of the fibroblast growth factor receptor 2 (FGFR2) showed a missense mutation consisting in a transversion G --> C at nucleotide 870. This led to a Trp290Cys amino acidic substitution. We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull.
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http://dx.doi.org/10.1002/pd.844 | DOI Listing |
Taiwan J Obstet Gynecol
January 2025
Gynecology and Obstetrics Clinic "Narodni front", Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene.
Case Report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week.
Quant Imaging Med Surg
December 2024
Ultrasound Medicine Center, Gansu Provincial Maternity and Child-care Hospital, Lanzhou, China.
Cureus
October 2024
Anesthesiology, University of Texas Medical Branch, Galveston, USA.
Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis and midface hypoplasia, often leading to significant airway challenges and respiratory complications during anesthesia management. This case report describes a four-year-old female with Pfeiffer syndrome who underwent Le Fort I osteotomy with distraction osteogenesis and concurrent ventriculoperitoneal shunt revision. Postoperatively, the patient experienced an extended pediatric ICU (PICU) stay with complex airway management, requiring prolonged mechanical ventilation and sedation.
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December 2024
Institute of Legal Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany. Electronic address:
Central nervous system-associated lesions can frequently be found in abusive head trauma (AHT) cases. Since there are frequently no visible signs of injury on the body surface, the diagnosis of AHT can be challenging. In particular, if the affected child shows only isolated neurological symptoms, these are often misinterpreted as a minor illness.
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