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PubMed1997

Mutation detection in FGFR2 craniosynostosis syndromes.

Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at-1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true.

Adult↗
PubMed1997

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

Jackson-Weiss syndrome is a rare skeletal disorder characterized by craniosynostosis associated with foot malformations. This condition is inherited as an autosomal dominant trait with complete penetrance and wide phenotypic heterogeneity. Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of this syndrome and of at least four other craniosynostotic disorders, namely the Apert, Beare-Stevenson cutis gyrata, Crouzon and Pfeiffer syndromes. We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome. Both nucleotide changes predict a serine for cysteine-342 substitution in the second half of the third immunoglobulin-like domain. The replacement of Cys342 with arginine has previously been reported in one of the three Jackson-Weiss cases investigated. Interestingly, both Cys342Ser and Cys342Arg substitutions have been found to be associated with the Crouzon and Pfeiffer phenotypes; a phenotypic heterogeneity, Crouzon vs Jackson-Weiss clinical features, has been also observed for Gln289Pro and Ala344Gly amino-acid changes. This finding indicates the genetic homogeneity of the "heterogeneous" Jackson-Weiss phenotype and a common molecular basis for these apparently "clinically distinct" craniosynostotic disorders.

Acrocephalosyndactylia↗
PubMed1999

Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis.

The Snail family of proteins in vertebrates comprises two zinc-finger transcription factors, Snail and Slug, which are thought to be involved in the formation of the mesoderm and neural crest. Here, we describe the isolation and characterisation of the human Snail (SNAI1) gene and a related Snail-like pseudogene, SNAI1P. SNAI1 spans approximately 6.4kb, contains three exons and has a CpG island upstream of the coding sequence. A single transcript of 1.9 kb was detected in several human foetal tissues, with the highest expression in the kidney. The SNAI1 open reading frame encodes a protein of 264 amino acids containing four zinc-finger motifs that show 87.1% identity to mouse Snail (mSna). SNAI1 was mapped to chromosome band 20q13.1 and is likely to lie between markers D20S109 and D20S196. Investigation of SNAI1 coding sequences by single-strand conformation polymorphism analysis excluded SNAI1 as a major disease gene in craniosynostosis. Two single nucleotide polymorphisms encoding synonymous amino acids were identified in exon 2. The SNAI1P pseudogene was isolated, sequenced and mapped to chromosome band 2q34.

Amino Acid Sequence↗
PubMed2004

The value of expanded polytetrafluoroethylene in preventing early re-ossification after craniosynostosis surgery: an experimental animal study in the rat.

BACKGROUND: Early re-ossification at the suturectomy site after craniosynostosis surgery remains an important problem. Many surgical methods have been used to address this, including placement of various types of absorbable and non-absorbable material between the bone edges at the site. This experimental study investigated the value of expanded polytetrafluoroethylene (ePTFE) membrane as a barrier to calvarial reclosure after craniosynostosis surgery in rats. METHOD: Thirty-five 2-week-old Sprague-Dawley rats were divided into two groups. In Group A (n = 17), ePTFE membranes were placed in the defect formed by a left coronal suturectomy. The Group B rats (n = 18) underwent left coronal suturectomy only. Animals were sacrificed at 1, 2 and 4 months postoperatively. In each case, the skull was removed and the operative site was examined for fibrosis, new bone formation, bone bridging, neovascularization and inflammatory response. FINDINGS: The two groups were similar with respect to neovascularization and new bone formation. By the end of the fourth postoperative month, 50% of the Group B specimens showed fibrosis and 50% showed bridging between the bone edges at the suturectomy site. In contrast, at the same stage in Group A, only 16.6% of the specimens exhibited a small amount of fibrosis, and none showed bone bridging between the edges. INTERPRETATION: Expanded PTFE is one of the most inert materials used in surgery. The study showed that inserting ePTFE membrane as a barrier between the bone edges at the suturectomy site prevents early re-ossification after craniosynostosis surgery in rats.

Animals↗
PubMed2000

Early experience with poly L-lactic acid bioabsorbable fixation system for paediatric craniosynostosis surgery. Report of 3 cases.

OBJECTIVE: The authors describe early experience in the use of bioabsorbable fixation devices for cranial reconstruction of paediatric craniosynostosis patients. METHODS: Three patients, individually respectively presenting sagittal synostosis, metopic synostosis, and clover leaf skull deformity, underwent cranial reconstruction using poly L-lactic acid (PLLA) plates and screws. The patients ranged in age from 2 to 10 months at the time of surgery. The postoperative clinical follow-up ranged from 16 to 18 months. All patients showed satisfactory wound healing without signs of infection or local inflammation. The plates provided satisfactory fixation and were not palpable through the skin after 16 to 18 postoperative months. CONCLUSION: Our experience demonstrated the efficacy of PLLA bioabsorbable plates and screws for cranial reconstruction in cases of infant craniosynostosis. Prospective studies and longer follow-up of a larger number of patients is desirable for confirmation of these findings.

Absorbable Implants↗
PubMed2003

[Clinical and molecular genetic observations on families with cherubism over three generations].

BACKGROUND: Cherubism is a rare fibro-osseous disorder that almost exclusively affects the maxilla and mandible. CASE REPORT: We report on three affected males in three generations in family A, and ten affected patients in family B. The youngest affected relative in family A also had craniosynostosis. His father and grandfather had cherubism and clubbed fingers. RESULTS AND DISCUSSION: Cherubism was mapped to region 4p16.3. Because of the associated craniosynostosis, we excluded the FGFR3 gene as a candidate gene for cherubism. The inheritance pattern is autosomal dominant with variable expression. The penetrance is 100% in males and 50-70% in females. We found incomplete penetrance in males, which does not conform with all publications.

Adolescent↗
PubMed2003

[Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)].

BACKGROUND: The FGFR3-associated coronal synostosis syndrome (Muenke craniosynostosis) is caused by a point mutation (C749G) on the FGFR3 gene resulting in a Pro250Arg substitution. METHODS: To characterize this malformation, the neuro- and viscerocranium were analyzed by axial CT scans of the skull and cephalometric radiographs of up to 13 affected children before and in part after fronto-orbital advancement. RESULTS: Preoperative analysis of the intracranial volume of four patients showed a mean decrease of 3.6%, indicating a compensatory growth pattern of the skull in cases of coronal synostosis. The typical brachycephaly could be verified by the significant shortening of the skull length of 13.2% on average and by the significant reduction of the anterior cranial base length of maximal 5.9% on average. The anterior part of the skull was characterized by a significant mean increase of the intercoronal distance of 8.6%, which indicates a compensatory transversal growth in this malformation. The widened bilateral interorbital and anterior interorbital distances were increased by 7.3 or 9.0%, respectively, confirming a hypertelorism typical for this syndrome. The "frontal bossing" frequently found in brachycephaly was characterized by the preoperatively increased sagittal extension of the forehead (about 112.9% above the norm) and by the increased height of the frontal prominence (about 47.8% above the norm). Following surgery, both variables defining the morphology of the forehead were reduced and appeared to be constant throughout the follow-up. Hypoplasia of the midface described by Muenke et al. (1997) was confirmed in the present study only by the significant reduction of the sagittal length of the maxillary base, which was decreased by 6.8%. CONCLUSION: In accordance with the current literature, the skull configuration described for Muenke craniosynostosis shows similarities with the Saethre-Chotzen syndrome.

Amino Acid Substitution↗
PubMed1999

[Animal experiments on the frontal sinus development after craniofacial surgery on the frontal bone in Göttingen miniature pigs].

According to the literature, the development of the frontal sinus is a result of the active immigration of cells from the ethmoidal complex into the os frontale. This migration theory is in contrast to the results in patients with Apert's syndrome. When front-orbital advancement at the age of a few months is performed in these patients--at a time when the frontal suture is not yet closed--a sinus developed despite the distance between nasal root and os frontale, being up to 2 cm. In order to investigate the development of the frontal sinus, an animal study in 12 juvenile Goettingen minipigs (age 5-6 weeks) with histologically pronen un-developed frontal sinus was performed. To exclude the emigration of ethmoidal complex cells into the frontale bone an orthotopical transposition of the frontale bone into the os occipitale was performed. Histologically the development of a frontal sinus in the frontal bone was excluded before transplantation. The macro- and microscopic comparison with a control group revealed that in the orthotopical transplants in the os occipitale an epithelium-lined sinus developed beginning from the 35th week. Based on our histomorphological results, a development scheme for the genesis of the sinus frontalis and a model is drawn.

Animals↗
PubMedDate not supplied

Medullary ray nodule of the kidney.

In this short report we describe three preterm infants who died within the first 8 months of life (corrected age). All presented similar histological features within the kidney, showing medullary ray nodules composed of tubules lined by low columnar epithelium with clear cytoplasm. The immunohistochemical profile of these lesions was identical and suggested origin from distal convoluted tubule or collecting duct. The aim of this report is to draw attention to this entity and to suggest a possible origin of these lesions.

Bronchopulmonary Dysplasia↗
PubMed2006

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Marfan syndrome (MFS, OMIM #154700) is a hereditary connective tissue disorder, clinically presenting with cardinal features of skeletal, ocular, and cardiovascular systems. In classical MFS, changes in connective tissue integrity can be explained by defects in fibrillin-1, a major component of extracellular microfibrils. However, some of the clinical manifestations of MFS cannot be explained by mechanical properties alone. Recent studies manipulating mouse Fbn1 have provided new insights into the molecular pathogenesis of MFS. Dysregulation of transforming growth factor beta (TGFbeta) signaling in lung, mitral valve and aortic tissues has been implicated in mouse models of MFS. TGFBR2 and TGFBR1 mutations were identified in a subset of patients with MFS (MFS2, OMIM #154705) and other MFS-related disorders, including Loeys-Dietz syndrome (LDS, #OMIM 609192) and familial thoracic aortic aneurysms and dissections (TAAD2, #OMIM 608987). These data indicate that genetic heterogeneity exists in MFS and its related conditions and that regulation of TGFbeta signaling plays a significant role in these disorders.

Abnormalities, Multiple↗
PubMed1954

The craniostenoses.

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Craniofacial Abnormalities↗
PubMed1977

Oculocutaneous albinism associated with Apert's syndrome.

Five of nine patients with Apert's syndrome (acrocephalosyndactyly) showed an associated hypopigmentation of hair, skin, and eyes. The hair color of these five patients ranged from light brown to blond, the skin was pale, and the irides hazel or blue. Iris transillumination and hypopigmentation of the fundus were present and associated with absent or diffuse foveal reflexes. Unlike most forms of classic oculocutaneous albinism, however, there was good visual acuity and no pendular nystagmus. The evidence indicated that the lack of pigmentation associated with the characteristic skeletal anomalies of Apert's syndrome resulted from a disturbance of independent, genetically related, processes occurring at a common point in gestation.

Acrocephalosyndactylia↗
PubMed1977

Biostereometric analysis of surgically corrected abnormal faces.

Biostereometrics is an accurate anthropometric system for quantifying geometric changes of facial form and the relationship of features as they are influenced by growth and by surgery. Facial features distant from the site of surgical intervention are influenced in their geometric relationship to each other by changes in the soft-tissue drape brought about by manipulation of skeletal tissues. The most accurate coordinate system should be elsewhere than on the surface of the face, but if this is not possible it should be in an area farthest removed from the surgical site. This investigation demonstrates that a usable coordinate transformation system can be created by connecting points supernasale and subnasale for establishing the Y Z plane and the construction of the X Z plane at subnasale. Accurate comparative numerical measurements can be made by using soft-tissue landmarks.

Acrocephalosyndactylia↗