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PubMed1992

Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child.

A boy is reported with the cloverleaf skull anomaly as part of the Pfeiffer syndrome. So far, this combination has only been observed in sporadic cases. However, the mother of this patient had also the syndrome of Pfeiffer, indicating that the cloverleaf skull abnormality may occur in familial cases. Development of the child after birth and therapeutic approaches are reported.

Acrocephalosyndactylia↗
PubMed2004

[Complex craniofacial synostoses].

BACKGROUND: Complex craniofacial synostosis is a group of rare genetic disorders characterized by premature closure of the sutures in the craniofacial skeleton and which to varying degrees affects the extremities. MATERIAL AND METHODS: On the basis of relevant literature, we present a review of syndromal craniofacial synostosis. RESULTS: Phenotypically, the complex craniofacial syndromes have many similarities. Synostosis of the sutures of the cranial vault can result in a variety of skull deformations, depending on the sutures involved, the sequence of premature closure, and the time of closure. Synostosis of the sutures in the skull base and facial skeleton leads to shallow orbits, exophthalmus, hypertelorism, midface retrusion, and prognathia. INTERPRETATION: Precise diagnosis of complex craniofacial syndromes may be difficult solely on the basis of a clinical examination. However, several of the most common syndromes are caused by mutations in genes that code for fibroblast growth-factor receptors. Children with a suspected complex craniofacial syndrome should be referred to genetic testing.

Acrocephalosyndactylia↗
PubMed2005

Understanding the molecular basis of Apert syndrome.

Apert syndrome, first described in 1906, is one of the most severe of the craniosynostosis syndromes and is further characterized by midface hypoplasia, syndactyly, and other visceral abnormalities. Affected individuals generally require lifelong management by a multidisciplinary team of health care specialists. Apert syndrome results almost exclusively from one or the other of two point mutations in fibroblast growth factor receptor 2. Tremendous scientific advances have been made recently in understanding the molecular basis for Apert syndrome through clinical genetic, biochemical, and structural approaches. In this review, the authors provide the clinician with a basic overview of these findings and their therapeutic implications.

Acrocephalosyndactylia↗
PubMedDate not supplied

The oral manifestations of Apert syndrome.

As part of an ongoing study of 119 patients with the Apert syndrome, extensive data were available for the analysis of oral manifestations, including mouth shape, lip posture, palatal morphology, dental anomalies, and malocclusion. Findings included a characteristic trapezoidal-shaped mouth. Cleft soft palate or bifid uvula was found in approximately 75%. A Byzantine-arch shaped palate was recorded in almost all patients. Dental anomalies included severely delayed eruption, ectopic eruption, and shovel-shaped incisors. Malocclusion tended to be severe with mesial molar occlusion, mandibular overjet, anterior and posterior crossbites, and severe crowding of teeth. The oral manifestations of Apert syndrome are compared and contrasted with those of Crouzon syndrome.

Acrocephalosyndactylia↗
PubMed2005

Apert syndrome.

Explore the source record for details and available documents.

Acrocephalosyndactylia↗
PubMed1992

Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?

In this report, we describe three sibs presenting an identical malformation syndrome i.e.: acrocephaly, brachydactyly, prominent metopic ridge, broad depressed nasal bridge, narrow maxillae, obesity and normal intelligence. We discuss the relationship between this combination of clinical signs and symptoms most compatible with the diagnosis of Summitt syndrome and the Carpenter syndrome.

Acrocephalosyndactylia↗
PubMed1992

Apert syndrome with partial preaxial polydactyly.

Acrocephalosyndactyly type I or Apert syndrome is characterized by craniosynostosis, particular dysmorphic features and abnormalities of the hands and feet. Rarely, polydactyly of the toes has been reported, and in this event the diagnosis of Carpenter syndrome must be discussed. A case of atypical Acrocephalosyndactyly type I syndrome with partial preaxial polydactyly is reported. Despite this preaxial polydactyly a diagnosis of Apert syndrome consecutive to a new mutation was made, and the possibility of recurrence considered to be highly improbable.

Acrocephalosyndactylia↗
PubMed2005

Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.

The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented. Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases. We report a patient with a rare form of Apert syndrome with polydactyly. The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes). The X-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion. Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene. Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available. On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome. This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies.

Acrocephalosyndactylia↗
PubMedDate not supplied

Pfeiffer syndrome: a syndrome of acrocephalosyndactyly.

The authors present a case of Pfeiffer syndrome, which differs from the classic description. Treatment consisted of surgical correction of the unusual digital deformity. The literature is reviewed in regard to acrocephalosyndactyly and related congenital disorders and deformities.

Acrocephalosyndactylia↗
PubMed1991

Syndactyly correction of the hand in Apert syndrome.

Surgical correction of syndactyly of the Apert hand should begin by 6 months and be completed by 3 years of age. As much surgery as possible is carried out at each sitting. Digit separation should be in order of functional importance. The first web space is deepened with a four-flap Z-plasty or a dorsal skin flap from the web and index finger. Syndactyly release using a dorsal flap and zig-zag technique is used to create the second and fourth web spaces. The complex long-ring syndactyly often requires a pedicled groin flap for reconstruction and preservation of growth potential. A five-digit hand can be achieved with adequate grasp and stable, sensate, well-aligned digits. These children can attain some degree of independent finger motion and aesthetically acceptable hands with this approach.

Acrocephalosyndactylia↗
PubMed2006

S252W mutation in Indian patients of Apert syndrome.

Two common mutations in the exon IIIa of fibroblast growth factor receptor 2 account for majority of the cases of Apert syndrome. They can be analyzed by amplifying the segment followed by testing for the abolition of restriction sites. We evaluated two children with typical features of Apert syndrome. A segment of FGFR2 exon IIIa was amplified by polymerase chain reaction. Restriction fragment length polymorphism was analyzed using enzymes MboI and BglI respectively for S252W and P253R mutations. The DNA segment was sequenced using ABI 310 automated DNA fragment analyzer. Both the patients showed S252W mutations. DNA sequencing confirmed the results of the restriction fragment length polymorphism. Our study is the first report from Indian subcontinent to show the prevalence of S252W mutation among Apert syndrome patients from Indian origin.

Acrocephalosyndactylia↗
PubMed2006

Oral health status of children with syndromic craniosynostosis.

OBJECTIVE: To gain more information on the oral health status of subjects with syndromic craniosynostosis. DESIGN: A cross-sectional study. MATERIALS AND METHODS: The present study took place at the Hospital for Rehabilitation of Craniofacial Anomalies of University of São Paulo (HRAC-USP). The sample was 19 patients with syndromic craniosynostosis (10 Apert, 5 Crouzon, 2 Pfeiffer and 2 Saethre-Chotzen), aged 5 to 15 years. An assessment of plaque, caries and gingival indices, and evaluation of the efficacy of toothbrushing was carried out. The measurements included PHP index, dmft and DMFT indices, gingival index, comparison of PHP before and after non-supervised toothbrushing and between individuals with and without severe syndactyly. RESULTS: The patients displayed high plaque index and poor efficacy of toothbrushing, regardless of the presence of severe syndactyly; despite the plaque accumulation, the gingival index was not proportionally high. There was predominance of the D component for the DMFT index, which combined with the need for restorative treatment in 42.1% of the patients indicates poor access to dental care by these patients. CONCLUSIONS: The results show the need for a dental follow-up programme for these patients. Carers should be informed of the importance in aiding these patients during accomplishment of oral hygiene at home.

Acrocephalosyndactylia↗
PubMed1991

Children with Apert syndrome: developmental and psychologic considerations.

Innovations in craniofacial surgery have enabled children with Apert syndrome to achieve their full potential by maximizing their opportunities for intellectual growth, physical competence, and social acceptance. However, at each developmental phase they are confronted with different challenges to their emotional and social adaptation that must be overcome. Children with Apert syndrome continue to face erroneous assumptions of mental retardation and social stigmatization because of their appearance. Families and medical care providers play a critical role in fostering their adjustment and supporting them during these emotionally stressful periods. Most importantly, by understanding the unique issues of each developmental period, parents and professionals also have the capacity to maximize their opportunity for psychologic well-being.

Acrocephalosyndactylia↗