ABSTRACT
El síndrome de Pfeiffer es una enfermedad autosómica dominante con una incidencia mundial estimada de 1 por cada 100 000 recién nacidos vivos. Se caracteriza principalmente por craneosinostosis, hipoplasia mediofacial, extremidades con gruesos artejos prominentes y sindactilia. Es causada por mutaciones alélicas en los genes del receptor del factor de crecimiento de fibroblastos 1 y 2.Presentamos el caso clínico de una recién nacida con cráneo en trébol, hipoplasia mediofacial, dentición congénita, proptosis bilateral severa, extremidades con dedos prominentes, sindactilia en pie izquierdo y fístula rectovaginal. A los 10 días de vida presenta perforación ocular derecha que requirió enucleación completa. Progresa con deterioro hemodinámico y respiratorio y fallece a los 11 días de edad.El diagnóstico clínico y molecular fue de síndrome de Pfeiffer tipo 2a con mutación Trp290Cys del gen FRFG2, que presentó fístula rectovaginal como asociación no descrita, constituyéndose en el primer caso reportado en el lugar de procedencia, pudiendo ser la primera manifestación de una mutación en el gen del receptor FGFR 2 en su área geográfica.
Pfeiffer syndrome is an autosomal dominant disease with an estimated worldwide incidence of 1 per 100,000 live births. It is mainly characterized by craniosynostosis, midface hypoplasia, great toes, and syndactyly. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 genes. We present a clinical case of female newborn with cloverleaf skull, mediofacial hypoplasia, congenital dentition, severe bilateral proptosis, limbs with prominent fingers, syndactyly in the left foot, and rectovaginal fistula. At 10 days old, she developed ocular perforation in the right eye and required enucleation. Subsequently, progressed with hemodynamic and respiratory deterioration and died at 11 days of age.In the present study, we report on a sporadic case of severe Pfeiffer syndrome type 2 in a Colombian infant who had a Trp290Cys mutation in the FRFG2 gene that presented rectovaginal fistula as non-described association, which makes it the first case reported in the place of origin. It could be the first appearance of a mutation in the gene of the FGFR 2 receptor in the geographical area.
ABSTRACT
Cloverleaf deformity is an extremely rare skull deformity that happens when mutiple joints (sutures) between a baby's skull bones begin to fuse too premature. Also known as Kleeblattschädel syndrome, the cloverleaf deformity causes bossing at the front and sides of the skull, resembling a cloverleaf shape. Cloverleaf skull syndrome is an abnormal configuration of the calvaria classified as Craniosynostosis, consisting of premature ossification of cranial bones. It is a deformity characterized by a remarkable enlargement of the head, with a trilobed configuration of the frontal view, resembling a three leaved clover .The first report about such a syndrome in the literature occurred in 1973 and, over the years only some tens of cases have been documented worldwide. The present report describes a case of a severe craniofacial condition that is known as "cloverleaf skull syndrome". On Physical examination multiple malformations were observed, with altered craniofacial configuration, low set ear, hypertelorism, exopthalmos, syndactyly, closed anterior fontanelle, high arched palate, bilateral CTEV. The vast majority of patients with kleeblattschädel have mentalretardation and hydrocephalus. It is usually seen in thanatophoric dysplasia: classically type II only, severe Apert syndrome, severe Crouzon syndrome, Boston-type craniosynostosis & Carpenter syndrome. Craniosynostosis has an overall incidence of 1 in 2100 to 1 in 2500 live births with multi-suture craniosynostosis constituting about 5% of all the cases
ABSTRACT
Cloverleaf skull deformity is not a syndrome or a disease, but one of the most severe forms of craniosynostosis which may or may not be associated with various syndromes such as achondroplasia, Crouzon's disease or Apert's syndrome. This deformity accompanies serious elevation of intracranial pressure which necessitates early surgical intervention to avoid death, mental retardation, and decreased visual acuity. Until recently, near total calvariectomy, staged anterior and posterior cranioplasty, and total calvarial remodelling using barrel stave osteotomy are used, but result in limited success only. High mortality and morbidity rates are related to multiple operations with long operation time in young age, difficulties in maintenance of patient position, and persistent deformity and bony defect. Therefore, the authors integrated various cranioplasty techniques originally developed for simple skull deformities and modified them according to the exact nature of the individual deformities under the unique original concept of 'Comprehensive Cranioplasty'. A fourteen week old male patient presented with trilobed skull shape, bony constriction band between the lobes, prominent forehead, flat occiput, and enlarged scalp veins. Three dimensional CT scan revealed premature fusion of total cranial sutures including metopic, sagittal, bilateral coronal, lambdoidal, and squamosal sutures. To release all the closed sutures and to correct the deformity in three dimensions, we adopted various cranioplasty techniques under the concept of comprehensive cranioplasty as follows; first, release of all cranial sutures by frontal craniotomy, bilateral temporal craniotomy, bilateral parasagittal strip craniectomy, and bilateral partial lambdoidal strip craniectomy, second, lengthening of skull anteroposterior dimension by fronto- orbital advancement and modified calvarial remodelling (infracture & outfracture), third, reduction of skull width by barrel stave osteotomy and bilateral parasagittal strip craniectomy, four, reduction of skull height by modified calvarial remodelling and split and transposition of craniotomized frontal bone segment, which also correct flat occiput and prominent forehead, respectively. All the operative procedures were performed under supine position. Without modified prone position, posterior cranium could be exposed to the inion level and it is sufficient to do the partial lambdoidal strip craniectomy and backcut osteotomy. We think modified prone position is not needed even in cases of posterior cranial deformity unless complete removal, ex vivo remodelling, and reattachment of occipital cranium are necessary. Eighteen months after the operation, the patient shows significant growth and improvement on both functional and aesthetic aspects despite persistent microcephalus, and insufficient reduction in cranial height and width. In summary, the authors experienced a quite satisfactory result both functionally and aesthetically in a complex cloverleaf skull deformity patient by combination and modification of previously developed various cranioplasty techniques according to the exact nature of the individual deformities under the concept of comprehensive cranioplasty.