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PubMed1993

Natal molars in Pfeiffer syndrome type 3: a case report.

The following report is the first documented case of natal teeth associated with a recently described new entity, Pfeiffer syndrome type 3. The clinical manifestations consistent with the spectrum of this rare disorder are described with an emphasis on the concomitant natal teeth. Pfeiffer syndrome type 3 is one of the craniosynostosis syndromes and has been described in only two patients to date. Both mandibular incisors and maxillary molar natal teeth were found. Natal teeth are teeth, which are present in the oral cavity at birth. They are often associated with developmental abnormalities and recognized syndromes. Their incidence ranges from 1 in 2,000 to 3,500 births. The natal teeth found in this infant included both the mandibular primary incisors and maxillary primary first molars bilaterally. The clinical and histological considerations of natal teeth and their management are discussed. The presence of multiple natal teeth is extremely rare.

Acrocephalosyndactylia↗
PubMed1994

Apert syndrome: quantitative assessment by CT scan of presenting deformity and surgical results after first-stage reconstruction.

We reviewed our experience with eight infants or young children (less than 2 years of age) who presented sequentially with Apert syndrome. Using a method of 14 measurements taken from the cranio-orbitozygomatic region in preoperative and postoperative CT scans of these patients, we documented their presenting skeletal morphology and the results of surgical correction at least 1 year after surgery. Significant preoperative findings included a wide anterior cranial vault at 110 percent of normal, a maximum cranial length that averaged only 90 percent of normal, a substantially widened anterior interorbital distance of 117 percent of normal, an increased lateral interorbital distance (112 percent of normal), and a widened bitemporal width at 122 percent of normal. Globe protrusion was significant at 121 percent of normal, and the medial orbital wall distance (length) was less than normal at 92 percent. In the upper midface (zygomatic) region, both the distance between the zygomatic buttresses and the interarch distance were found to be increased at 109 percent of normal, while the zygomatic arch lengths were substantially shortened at 79 percent of normal. Results of surgical correction, as documented by CT scan measurements, showed that more than a year after surgery, skeletal morphology had changed from preoperative measurements but that none of the craniofacial measurements had significantly improved (p < 0.05) in comparison with those of age-matched controls. Quantitative measurement of CT scans of the cranio-orbitozygomatic region confirmed clinically observed findings in these patients before cranio-orbital reconstruction in infancy and early childhood and proved useful in assessing the surgical results over time.

Acrocephalosyndactylia↗
PubMed1994

Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.

Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. We have previously provisionally assigned the gene for one such condition, Saethre-Chotzen syndrome (ACS III), to chromosome 7p. Linkage analysis is now reported between ACS III and dinucleotide repeat loci on distal 7p. The maximum lod scores, Zmax, were 5.57 at a recombination fraction of .05, with D7S488, and 4.74 at a recombination fraction of .05, with D7S493. Only weak linkage, not reaching significance, was found with distal markers (D7S513 and afm281vc9) and a proximal marker (D7S516). Multipoint analysis shows that the disease locus lies between D7S513 and D7S516. Analysis of individual recombinants shows that the most likely position is between D7S493 and D7S516. Linkage data in regard of Jackson-Weiss syndrome demonstrate that this autosomal dominant form of acrocephalosyndactyly does not map to the ACS III region on 7p or to the acrocephalosyndactyly locus on 5q (Boston type). These findings underline the genetic heterogeneity among the different clinical conditions manifesting with acrocephalosyndactyly.

Acrocephalosyndactylia↗
PubMed1993

[On Apert syndrome. A case report].

The authors, after a description of Apert syndrome, have reported a case of an observed newborn. In this case the paternal age was not determinant and the mother was young and in good health. No chromosomal anomalies were found as to the baby. They have reported the baby's malformative condition has been reported in order to give a contribution that may increase the cases observed worldwide.

Acrocephalosyndactylia↗
PubMed1993

[Saethre-Chötzen syndrome. A study apropos of 17 cases].

Case reports of seventeen patients with the Saethre-Chötzen syndrome treated at the Stomatology and Maxillofacial Surgery Clinic, Nantes, France are analyzed, together with clinical and paraclinical signs of this syndrome, included within the framework of the acrocephalosyndactylies. Results of cases reported in the published literature are reviewed and compared with those of the present series. The characteristic craniofacial equilibrium of the Saethre-Chötzen syndrome is discussed, together with findings of a teleradiographic study performed according to Delaire's analysis. A discussion on the differential diagnosis of this syndrome is enlarge to include all acrocephalosyndactylies.

Acrocephalosyndactylia↗
PubMed1993

Apert's syndrome (acrocephalosyndactyly) in a patient with hyperhidrosis.

Apert's syndrome, also known as acrocephalosyndactyly, is a rare type of premature craniofacial synostosis characterized by the clinical triad of cranial and facial malformations along with syndactyly of the hands and feet. Acne vulgaris involving atypical sites such as the upper extremities constitutes the dermatologic hallmark of this rare genodermatosis. We report a patient who demonstrates the classic findings of Apert's syndrome. Our patient also presented with severe hyperhidrosis, which may represent a new clinical finding not previously reported in association with this syndrome.

Acrocephalosyndactylia↗
PubMed1993

Anorectal anomaly in Pfeiffer syndrome.

A Japanese girl with Pfeiffer syndrome is described. She has clinical and radiological manifestations typical of the syndrome. In addition, she had an imperforate anus not described previously in the syndrome. This seems to expand the phenotype associated with Pfeiffer syndrome or represent a new acrocephalosyndactyly syndrome.

Acrocephalosyndactylia↗
PubMedDate not supplied

A severe case of Pfeiffer syndrome associated with stub thumb on the maternal side of the family.

We report a severe case of Pfeiffer syndrome with an early demise. The mother and her own father had unilateral stub thumb, which was inherited as a coincidental autosomal dominant trait. Although the affected thumb was short, it was not broad and neither family member had any features of Pfeiffer syndrome. We conclude that our patient represents a new Pfeiffer syndrome mutation.

Acrocephalosyndactylia↗
PubMed1993

Pfeiffer's syndrome family tree. Review of the literature.

Pfeiffer's syndrome is an autosomal dominant disorder characterized by craniofacial abnormalities and distal extremity abnormalities. This case study reviews four generations of a family with craniofacial abnormalities, multiple simple syndactylies, and delta phalanges of bilateral great toes and thumbs inherited in an autosomal dominant fashion.

Acrocephalosyndactylia↗
PubMed1993

[A further case with Baller-Gerold syndrome (craniosynostosis--radial aplasia syndrome)--overview and new viewpoints on a rare syndrome].

The Baller-Gerold syndrome is a rare malformation syndrome with craniosynostosis. A radial defect is the main feature of this combination besides the premature craniosynostosis. The entity and the etiology of this inherited trait was often discussed in recent years. This syndrome is further characterised and presented as a distinct entity with the reported new case. Parents of such a child should be aware of the 25% recurrence risk in subsequent siblings because of an autosomal recessive mode of inheritance.

Acrocephalosyndactylia↗
PubMed1993

[Akin moyamoya disease in children].

Moyamoya disease is characterized by bilateral involvement of the internal carotid arteries. The etiology of this involvement is unknown. However, we previously reported two pediatric cases of moyamoya disease that progressed from unilateral to bilateral involvement. Some cases of unilateral occlusion in the carotid fork seem to have occurred at an early stage of definite moyamoya disease. In the present study, we examined five pediatric patients showing bilateral and/or unilateral occlusion of the internal carotid artery. In each case, the etiology was known. They included Apert syndrome, radiation therapy for pilocytic astrocytoma, systemic lupus erythematosis, von Recklinghausen disease and Down syndrome. The clinical manifestations, EEG, CT, MRI, PET, and angiographic findings in these patients were presented in comparison with those of definite moyamoya disease. This comparison led us to suggest that definite moyamoya disease might be included in these cases, and we emphasize the importance of precise examination in each case.

Acrocephalosyndactylia↗
PubMed1993

Enophthalmos following orbital transposition for craniofacial malformations.

This is a retrospective study of the frequency and factors that portend enophthalmos following orbital osteotomies and transposition for craniofacial malformations. Clinically obvious postoperative enophthalmos (POE) was noted in 23 (37.7 percent) of 61 patients undergoing such procedures. Postoperative enophthalmos was observed in 86 percent of Apert patients who had combined anteromedial orbital transposition and in 48 percent of patients with hypertelorbitism who had standard 360-degree osteotomies. In contrast, the incidence of postoperative enophthalmos was 21 percent following frontofacial (monobloc) or subcranial (Le Fort III) advancement. Postoperative enophthalmos also correlated with the occurrence of orbital fracture/fragmentation and with disruption of the periorbita. This study underscores the importance of establishing the correct relationship of the globe to the orbital rim (euophthalmos) while maintaining the spatial position of the eye, especially its anterior projection. Postoperative enophthalmos can be prevented by inserting bone grafts into orbital osteotomy gaps, correcting orbital volume/morphology following floor or wall outfracture/fragmentation, and preserving the periorbital supporting system.

Acrocephalosyndactylia↗
PubMed1993

The monobloc frontofacial advancement: do the pluses outweigh the minuses?

The results of 32 patients who underwent transcranial monobloc frontofacial advancement by the senior author (Wolfe) are examined. Fifteen of the patients were Crouzon's and 17 were Apert's, 14 of whom also underwent simultaneous facial bipartition. The ages ranged from 7 months to 14 years. Although a transcranial facial advancement carries with it substantial risks, with careful consideration of airway control, the anterior cranial base dura, and the retrofrontal dead space, the procedure is recommended for carefully selected patients. The indications and contraindications for the procedure in various age groups are given.

Acrocephalosyndactylia↗
PubMed1996

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

Fibroblast growth factor receptor 2 (FGFR2) mutations have been associated with the craniosynostotic conditions Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Previously, mutations were described in the exons IIIa and IIIc, which form the extracellular, third immunoglobulin-like domain (IgIII) and adjacent linker regions, both of which are normally involved in ligand binding. For all three conditions, mutations were found in exon IIIc. Only in Crouzon syndrome were mutations identified in exon IIIa. In this study, 39 cases with one of these three conditions were screened for exon IIIa or IIIc mutations. Eleven mutations are reported in 17 unrelated cases. Mutations in exon IIIa are identified for not only Crouzon but also Jackson-Weiss and Pfeiffer syndromes. Four mutations in either exon IIIa or exon IIIc reported only in Crouzon syndrome are present also in one of the other two syndromes. Two insertions, one in exon IIIa in a Crouzon syndrome patient and the other in exon IIIc in a Pfeiffer syndrome patient, were observed. The latter mutation has the same alternative RNA splicing effect as a reported synonymous mutation for Crouzon syndrome. A missense mutation was detected in one Pfeiffer syndrome family in which two members had craniosynostosis without limb anomalies. The inter- and intrafamilial variability in expression of FGFR2 mutations suggests that these three syndromes, presumed to be clinically distinct, are instead representative of a spectrum of related craniosynostotic and digital disorders.

Acrocephalosyndactylia↗
PubMed1996

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2). We have developed a simple PCR assay for these mutations in genomic DNA, based on the creation of novel (SfiI) and (BstUI) restriction sites. Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation. Phenotypic differences between these two groups of patients were investigated. Significant differences were found for severity of syndactyly and presence of cleft palate. The syndactyly was more severe with the Pro253Arg mutation, for both the hands and the feet. In contrast, cleft palate was significantly more common in the Ser252Trp patients. No convincing differences were found in the prevalence of other malformations associated with Apert syndrome. We conclude that, although the phenotype attributable to the two mutations is very similar, there are subtle differences. The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2.

Acrocephalosyndactylia↗