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PubMedDate not supplied

Craniosynostosis with autosomal dominant transmission in New Zealand white rabbits.

Although great strides have been made recently in determining the etiology of a number of human craniosynostotic syndromes, pathogenic mechanisms for these conditions are still unclear, in part because of the lack of a genetic animal model with primary craniosynostosis. Recently, we developed an inbred colony of rabbits with congenital coronal suture synostosis. The present study describes long term breeding demographics, karyotypes, and pedigree analysis from this colony in an effort to characterize the genotype and mode of inheritance of craniosynostosis for future etiopathogenic studies. Seventy-six consecutive back- and intercrosses resulted in 46 fetal and term litters and produced 135 normal offspring and 163 affected offspring with either partial or complete coronal suture synostosis. Conception rate, litter size, and gestation length were normal, and karyotype analysis revealed no gross chromosomal abnormalities. Pedigree analysis of the segregation rates observed for each rabbit litter suggests that the craniosynostosis seen in this pedigree is inherited in an autosomal dominant fashion with reduced penetrance and variable expression. Results revealed that the mode of inheritance and phenotypic variability noted in this colony closely parallel the human craniosynostotic condition and several possible candidate gene families are discussed. The utility of developing such a congenital animal model is evident and may lead to a better understanding of gene expression, normal suture morphogenesis, and the pathogenesis of craniosynostosis.

Animals↗
PubMed1996

[Treatment of sagital craniosynostosis (scaphocephaly) by means of immediate surgical correction].

INTRODUCTION: From 1983 to 1994, a total of 86 patients having scaphocephaly were studied and treated in our Craniofacial Unit. The present study involves 60 patients treated between 1988 and 1994 which were operated upon with the same surgical technique and that which is currently being used in our department. The surgical approach and results are analyzed. CLINICAL MATERIAL AND METHODS: Patients having scaphocephaly represented 47.51% out of the total 181 children having craniosynostosis and craniofacial synostosis during this period. All of the patients were studied with computerized tomography, with 10 of them having continuous monitoring of their intracranial pressure. All children in this series were treated according to a new surgical technique that achieves an "immediate correction" of the malformation. RESULTS: No patient had abnormal neurological findings and intracranial pressure (ICP) was within normal limits in 0 out of 10 patients having continuous ICP monitoring. CONCLUSIONS: The minimal complications and the excellent cosmetic results have resulted in an optimal surgical technique. The importance of an early diagnosis and surgical treatment of sagittal synostosis is emphasized.

Child, Preschool↗
PubMed1997

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic craniosynostosis do not have the classical findings of those craniosynostosis syndromes. Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. In this instance, a new clinical syndrome is being defined on the basis of the molecular finding. In addition to the skull findings, some patients had abnormalities on radiographs of hands and feet, including thimble-like middle phalanges, coned epiphyses, and carpal and tarsal fusions. Brachydactyly was seen in some cases; none had clinically significant syndactyly or deviation of the great toe. Sensorineural hearing loss was present in some, and developmental delay was seen in a minority. While the radiological findings of hands and feet can be very helpful in diagnosing this syndrome, it is not in all cases clearly distinguishable on a clinical basis from other craniosynostosis syndromes. Therefore, this mutation should be tested for in patients with coronal synostosis.

Adult↗
PubMed1998

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.

Kabuki syndrome (KS) is a rare multiple malformation disorder characterized by developmental delay, distinct facial anomalies, congenital heart defects, limb and skeletal anomalies, and short stature. Renal anomalies have been reported in a few cases of KS, but to our knowledge, hepatic anomalies have not. Here, we document two cases of KS requiring liver or kidney transplantation: one with severe hepatic and renal anomalies and one with severe renal anomalies. Both cases had the characteristic facial appearance of children with KS, postnatal growth deficiency, and developmental delay. At birth, case 1 presented with hypoglycemia, ileal perforation, right hydroureter, and hydronephrosis. The patient subsequently developed hyperbilirubinemia, hepatic abscess, and cholangitis. At age 8 months, he underwent a liver transplant. Hepatic pathology diagnosed neonatal sclerosing cholangitis. Case 2 presented with renal failure at age 6 years. Renal ultrasound study showed markedly dysplastic kidneys requiring transplantation. In addition to characteristic findings of KS, she had coronal synostosis and was shown to have immune deficiency and an autoimmune disorder manifesting as Hashimoto thyroiditis and vitiligo. We conclude: 1) severe hepatic and renal anomalies leading to organ failure can occur in KS; 2) patients with neonatal sclerosing cholangitis should be examined closely for features of KS; 3) coronal synostosis may occur in KS; and 4) immune deficiency and autoimmune disorder can be associated with KS.

Abnormalities, Multiple↗
PubMed1998

[Increase in the incidence of occipital plagiocephaly].

INTRODUCTION: The diagnosis and treatment of posterior plagiocephaly is one of the most controversial aspects of craniofacial surgery. PATIENTS AND METHODS: The purpose of this study is to describe a recent increase in the incidence of occipital plagiocephaly without synostosis in our hospital during the last 6 months. The shift in the referral patterns is roughly contemporaneous with the American Academy of Pediatrics recommendations regarding infant sleep position. The temporal coincidence of this increase with the recommendation to avoid the prone sleeping position, to reduce the risk of sudden infant death syndrome, suggests a possible causal relationship. If the association is causal, education regarding the need of head position rotation coupled with that for sudden infant death syndrome should obviate positional occipital plagiocephaly. CONCLUSIONS: The feature of true lambdoid synostosis versus those of deformational plagiocephaly secondary to positional molding are inadequately described in the literature and poorly understood; the differential diagnosis is important in relation to a conservative diagnostical and therapeutical intervention in patients with positional molding.

Craniosynostoses↗
PubMed1997

Sutural bone frequency in synostotic rabbit crania.

This study tests the hypothesis that crania with synostosed sutures will have a significantly higher incidence of calvarial sutural bones than normal crania. Sutural bones were counted in seven calvarial sutures and compared among four groups of adult New Zealand white rabbit skulls: normal in-colony (NI) controls (N = 14), normal out-colony (NO) controls (N = 12), skulls with familial delayed onset (DO) coronal synostosis (N = 25), and skulls with experimentally immobilized coronal sutures (EI) (N = 20). Comparisons among groups were made with a Kruskal-Wallis one-way ANOVA and between groups with a Mann-Whitney U-test, using a Bonferroni correction for multiple comparisons. Significant differences (P < 0.05) were noted only in the coronal and sagittal sutures, with EI crania having the greatest number of coronal sutural bones; between group differences were undetectable for sagittal sutural bones. A post hoc two-sample binomial test for equal proportions showed that the distribution of coronal sutural bones among individuals across groups was even, while the distribution of sagittal sutural bones was significantly higher in EI crania. These results suggest that altered sutural forces of the calvaria contribute to an increased occurrence of sutural bones. However, the influence of inheritance on increased occurrence of sutural bones cannot be discounted, as reflected in the equivalent number of individuals across groups that possessed coronal sutural bones.

Analysis of Variance↗
PubMed1989

Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association.

Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. This family has been cited in several reports as an example of familial CHARGE syndrome. We do not think that the patients in this family have the Charge syndrome or association. Therefore, we decided to do a follow-up study on this family to assess the subsequent development of the patients and to determine if they have the CHARGE syndrome. We conclude that our patients do not have familial CHARGE syndrome.

Abnormalities, Multiple↗
PubMed2003

Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features.

We report a patient with severe mental retardation (MR), microcephaly, Dandy-Walker malformation, bilateral lip/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, including Y-shaped metacarpals and urogenital abnormalities. High-resolution karyotype and subtelomeric fluorescence in situ hybridization were normal. We propose that his clinical picture is most consistent with Juberg-Hayward or orocraniodigital syndrome. Several clinical features present in our patient (unilateral distal displacement of elbow position, second-site radioulnar synostosis, bilateral Y-shaped metacarpal, lobular tongue, hypertrophic frenuli, Dandy-Walker malformation) have not previously been reported in this condition, thus expanding the phenotypic spectrum of this rare condition. The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes.

Adolescent↗
PubMed2004

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.

Antley-Bixler syndrome (ABS) is characterized by skeletal defects including craniosynostosis and radiohumeral synostosis. Although mutations in the FGFR2 gene have been found in some patients called ABS, genetic heterogeneity of this syndrome has been proposed. We have previously reported three ABS patients with unique abnormalities in steroidogenesis (apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase, and 21-hydroxylase). Decreased activity of lanosterol 14alpha-demethylase has also been described in an ABS patient. Since all these enzymes require cytochrome P450 oxidoreductase (encoded by POR) as an electron donor, we studied POR in two unrelated ABS patients with abnormal steroidogenesis. Direct sequencing of POR revealed that both patients had compound heterozygous mutations (1329insC and R454H in a male patient, 1698insC and R454H in a female patient). The two insertional mutations were assumed to generate truncated and unstable mRNAs. The R454H mutation was assumed to be deleterious because the R454 resides in the FAD-binding domain and is highly conserved among diverse species. Our results demonstrate that mutations in POR cause the ABS phenotype with autosomal recessive inheritance and with characteristic abnormalities in steroidogenesis.

Abnormalities, Multiple↗
PubMed2006

Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

The Antley-Bixler syndrome (ABS) is a multiple congenital malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia or stenosis, joint contractures, urogenital abnormalities and, often, early death. Autosomal recessive and dominant inheritance have been postulated, as has fluconazole teratogenesis. Mutations in POR (P450 (cytochrome) oxidoreductase, an essential electron donor to enzymes participating in cholesterol biosynthesis), have been identified in some patients with the ABS phenotype. Recent evidence suggests that these mutations cause attenuated steroid hydroxylation, which in turn, causes congenital adrenal hyperplasia (CAH) with ambiguous genitalia in both sexes and glucocorticoid deficiency. Here, we report on a new patient with findings of both ABS and CAH that further illustrates how low maternal estriol at prenatal screening can serve as a marker steroid facilitating early diagnosis.

Abnormalities, Multiple↗
PubMed1986

[Congenital superior radioulnar synostoses. A study of 43 cases].

Superior radioulnar synostosis is a rare abnormality which frequently gives rise to functional disability. Its pattern of inheritance is uncertain. We have studied 29 children, 18 boys and 11 girls, who had a total of 43 such synostoses. Twenty children had significant functional disability. Fourteen required operation, 10 undergoing a Judet's osteotomy and 4 osteotomy of the lower end of the radius. The dominant hand was placed in the position of function, and the other in 30-40 degrees of supination. The osteotomies were secured by pins and supported in a plaster splint. Use of the forearm and hand was improved in all cases. Operation is best carried out between the ages of 4 and 10, and a useful functional improvement can be expected.

Age Factors↗
PubMed1995

The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.

UNLABELLED: The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy. Beside the unusual severity of the renal abnormalities, both cases had an imperforate anus in addition to the more common genital abnormalities. CONCLUSION: Renal agenesis and imperforate anus may occur in the Antley-Bixler syndrome.

Abnormalities, Multiple↗
PubMed1985

Multisynostotic osteodysgenesis.

A sporadic case of multisynostotic osteodysgenesis is reported in a 15-day-old female infant with urogenital abnormalities. The main radiological findings were craniosynostosis, radiohumeral synostosis, femoral bowing and fractures. The typical combination of clinical and radiologic findings allow the ready recognition of this syndrome. Seven earlier cases have been reported, five sporadic and one familial; in two sisters.

Abnormalities, Multiple↗
PubMed2003

Plagiocephaly: morphometry of skull base asymmetry.

The aim of this study was to perform a morphometric analysis of the skull base to understand the mechanism of asymmetry between malformational and deformational plagiocephaly. Since 1988, we have carried out 102 CT scans with three-dimensional reconstruction of the endocranial side of the skull base. There were 20 cases of malformational plagiocephaly, consisting of 18 unicoronal synostoses (UCS) and two unilambdoid synostoses (ULS), and 82 cases of plagiocephaly without synostosis, made up of 60 cases of frontal plagiocephaly (FP) and 22 of occipital plagiocephaly (OP). The skull base asymmetry was analyzed in three ways: (1) the hemibases and the cranial fossa angles were compared with each other; (2) the structural asymmetry of the chondrocranium was calculated; and (3) the architectural asymmetry was measured in relation to the medio-labyrinthine plane. The skull base asymmetry of malformational plagiocephaly was located in the anterior and middle cranial fossae for UCS and in the posterior and middle cranial fossae for ULS. The asymmetry was the result of a localized structural anomaly of the chondrocranium. The asymmetry of deformational plagiocephaly corresponded to a distortion in relation to the medio-labyrinthine plane while the chondrocranium remained symmetric. The skull base asymmetry of malformational plagiocephaly is secondary to a localized malformation of the chondrocranium, and that of the deformational plagiocephaly is secondary to an architectural deformation.

Analysis of Variance↗
PubMed1997

Kissing osteochondromata leading to synostoses.

Our aim was to determine the incidence of synostoses in the bones of the lower limbs in patients with multiple cartilaginous exostosis (MCE) and use the available imaging to suggest the cause and mechanism of its development. Radiographs of the lower legs of 21 patients with MCE were reviewed. With the intention of demonstrating the exact site and extent of synostoses and other bone deformities, such as bone pressure atrophy or erosions in five patients, 8 proximal and 6 distal tibiofibular joints were examined by CT scans. No synostoses were present in 11 patients and 10 patients had 1 to 4 synostoses. Of these synostoses, 14 were localized below the knee joint and 9 above the ankle joint. A growing osteochondroma arising from tibia or fibula can cause an erosion in the contagious surface of the neighbouring bone. If facing osteochondromata are present in both bones and show an interlocking growth at abutting parts, on osseous fusion can take place with formation of a synostosis in the proximal or distal tibiofibular joint region. In adult patients with MCE and abundant osteochondromata synostoses between the neighbouring bones of the lower legs are common findings; they are always caused by coalescence of "kissing" osteochondromata.

Adolescent↗
PubMed1998

Operative treatment of the anterior synostotic plagiocephaly: analysis of 45 cases.

An operative series of 45 patients with anterior synostotic plagiocephaly is analyzed. In the cases of six children it was not possible to visualize synostosis of the cranial sutures on plain X-ray films or three-dimensional CT. Primary procedures were performed at an average age of 14 months with an average postoperative follow-up of 47.5 months. Children were operated on either with lateral canthal advancement (5 cases), unilateral orbital advancement with "tongue in groove" (12 cases), or bilateral orbital advancement (28 cases). Excellent results were obtained in 33/45 patients, while 8/45 children required secondary minor revisions. Of the three different surgical techniques, the results achieved by the bilateral approach were considered better than those attained with the unilateral techniques. Osteotomies of the nasal bones are recommended in the cases of older children with severe nasal deviation associated with dislocation of the nasoethmoidal complex.

Congenital Abnormalities↗
PubMed1977

Displaced radial neck fractures in children.

Forty-eight children with displaced fractures of the radial neck were studied. Five types of injury were seen, that associated with a valgus strain being the most common. Good results were obtained in just over one-half of the cases. It is concluded that treatment of these fractures should be by closed means whenever possible. It is generally unwise to attempt operative correction unless the radial head remains displaced or the residual angulation approaches 45 degrees. Open reduction should be checked by intraoperative radiographs. Internal fixation is seldom necessary and has its complications. Late manipulation of the fracture causes additonal trauma and the results are bad. Avascular necrosis and radio-ulnar synostosis were the two most disabling complication encountered.

Adolescent↗
PubMed2004

Miscellaneous conditions about the elbow in athletes.

This article reviews some of the conditions about the elbow in athletes or active individuals. The conditions discussed are synovial plica of elbow, radiocapitellar arthritis, congenital dislocation of the radial head, radio-ulnar synostosis, hemophilia and rheumatoid arthritis. In the past, people who had these conditions were instructed to avoid athletic activities; however, they are now being counseled to remain active and to try to exercise on a regular basis.

Arthritis↗