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PubMed1994

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable expression. To define the range and frequency of complications in BWS, we have studied a cohort of 76 affected patients (two previously reported). The most frequent complications were macroglossia (97%), abdominal wall defect (80%) and birth weight or postnatal growth > 90th centile (88%). Other common features were ear creases/pits (76%), facial naevus flammeus (62%), nephromegaly (59%) and hypoglycaemia (63%). Rarer complications included hemihypertrophy (24%), moderate/severe developmental delay (4%), congenital heart defects (6.5%), polydactyly (4%), neoplasia (4%) and cleft palate (2.5%). Pre-term labour occurred in 53% and polyhydramnios in 33% of BWS pregnancies. The six deaths all occurred in babies born pre-term, three of whom had major congenital abnormalities. Five patients (6.5%) from four kindreds had an unequivocal family history of BWS, but 15 of 68 apparently sporadic cases had a relative with possible BWS (minor features only). Incomplete penetrance may lead to familial BWS being underdiagnosed.

Adolescent↗
PubMed1996

Fibular dimelia and mirror foot without associated anomalies.

Fibular dimelia with mirror foot is a rare anomaly that may be associated with additional anomalies such as ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. We report a female child with unilateral tibial aplasia, ipsilateral duplication of fibula and calcaneus, and mirror polydactyly of the foot without associated abnormalities.

Female↗
PubMed2005

Discrepancies in upper and lower limb patterning in split hand foot malformation.

Discrepancies in upper and lower limb patterning in split hand foot malformation. Split hand foot malformation (SHFM) is genetically heterogeneous with five loci mapped to date. Highly variable in presentation, it can occur as an isolated finding or with other anomalies. The genetic heterogeneity and clinical variability make genetic counselling of SHFM families challenging. By establishing genotype/phenotype correlations, one can provide insight into responsible developmental genes and help to direct mapping efforts and target genetic testing, ultimately providing more accurate information for family members. Preaxial involvement of the upper extremities was a significant discriminating limb-specific variable in our analysis of genetically mapped SHFM cases. This finding, which was originally identified through descriptive epidemiology, was subsequently confirmed by discriminant function analysis (p < 0.0001) to be a significant locus discriminator. Preaxial involvement of the upper extremities was most commonly seen at the SHFM3 locus mapped to chromosome 10q24 (OMIM 600095) and consisted of proximally placed thumbs and/or triphalangeal thumbs (TPT), preaxial polydactyly and/or absence of the first ray. These patients' feet, however, tended to show a classical central longitudinal deficiency without a significant preaxial component. This article discusses this discrepant clefting pattern between the upper and lower extremities and proposes potential mechanisms.

Abnormalities, Multiple↗
PubMed2005

An analysis of PAX1 in the development of vertebral malformations.

An analysis of PAX1 in the development of vertebral malformations. Due to the sporadic occurrence of congenital vertebral malformations, traditional linkage approaches to identify genes associated with human vertebral development are not possible. We therefore identified PAX1 as a candidate gene in vertebral malformations and congenital scoliosis due to its mutation in the undulated mouse. We performed DNA sequence analysis of the PAX1 gene in a series of 48 patients with congenital vertebral malformations, collectively spanning the entire vertebral column length. DNA sequence coding variants were identified in the heterozygous state in exon 4 in two male patients with thoracic vertebral malformations. One patient had T9 hypoplasia, T12 hemivertebrae and absent T10 pedicle, incomplete fusion of T7 posterior elements, ventricular septal defect, and polydactyly. This patient had a CCC (Pro)-->CTC (Leu) change at amino acid 410. This variant was not observed in 180 chromosomes tested in the National Institute of Environmental Health Sciences (NIEHS) single nucleotide polymorphism (SNP) database and occurred at a frequency of 0.3% in a diversity panel of 1066 human samples. The second patient had a T11 wedge vertebra and a missense mutation at amino acid 413 corresponding to CCA (Pro)-->CTA (Leu). This particular variant has been reported to occur in one of 164 chromosomes in the NIEHS SNP database and was found to occur with a similar frequency of 0.8% in a diversity panel of 1066 human samples. Although each patient's mother was clinically asymptomatic and heterozygous for the respective variant allele, the possibility that these sequence variants have clinical significance is not excluded.

Base Sequence↗
PubMed1991

Antenatal ultrasonic diagnosis of Meckel Gruber syndrome (a case report with review of literature).

Meckel Gruber syndrome is a rare autosomal recessive disorder with major characteristic features consisting of occipital encephalocele, polydactyly and polycystic kidneys along with other associated malformation. Antenatal ultrasonic examination can establish the correct diagnosis by identifying at least two of the major features described. The antenatal ultrasonic findings and pathology of this uncommon entity are discussed.

Abnormalities, Multiple↗
PubMed1995

Clinical features of Bardet-Biedl syndrome.

Six patients with Bardet-Biedl syndrome who have been followed in our clinics for the last 5 years are reported in this study. Of the five classic features of this syndrome; obesity and mental retardation were present in all cases, retinal disturbances were present in five, polydactyly in three and hypogenitalism was observed in all four male patients. Renal involvement, often suggested as a cardinal feature of this syndrome, was described in two patients. Iron deficiency anemia occurred in three patients, two patients were of short stature, one patient presented with an empty sella, and in two patients clinodactyly was detected. The results are compared to previously published literature and discussed.

Child↗
PubMed2004

Joubert syndrome: review and report of seven new cases.

Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS.

Abnormalities, Multiple↗
PubMed2006

Is congenital hepatic fibrosis a pure liver disease?

OBJECTIVES: An association between congenital hepatic fibrosis (CHF) and several different conditions is being increasingly recognized. We aimed to investigate, prospectively, these associated disorders and the clinical consequences for patients with CHF. MATERIALS AND METHODS: CHF was diagnosed using liver biopsy, abdominal ultrasound (US), Doppler US, upper endoscopy, and abdominal computed tomography (CT) in 19 patients (13 women, 6 men). CT portography and splenoportography with digital subtraction angiography were performed if indicated. Endoscopic retrograde cholangiopancreatography (ERCP) was performed to investigate the extent of portal vein involvement of the common bile duct if it existed, to remove a stone located in the common bile duct when documented, and to confirm the diagnosis of Caroli's syndrome. Cranial MRI was done when clinical findings suggested brain involvement. RESULTS: The mean age of the patients was 29.47+/-12.06, ranging from 13 to 57. CHF-associated diseases were Caroli's syndrome, polycystic kidney disease, cavernous transformation of the portal vein, Joubert's syndrome, von Meyenburg complex, polydactyly, medullary sponge kidney, and pancreatic duct atrophy. In two cases, cholangiocarcinoma had developed. There was only one case with pure CHF. Portosystemic shunt, TIPS, or splenectomy were performed in some cases to control bleeding from esophageal varices. Papillotomy and stone extraction from the common bile duct were performed in four patients with Caroli's syndrome complicated by cholangitis. Three patients died of complications of CHF. Two patients with Caroli's syndrome underwent liver transplantation. CONCLUSION: In this prospective study, it seems that CHF is not a pure liver disease but rather a multiorgan disorder involving the brain, portal vein, kidneys, and bile ducts. In most cases, the clinical picture includes other organ involvement, rather than purely the liver parenchyma.

Adolescent↗
PubMed1987

Locked-in syndrome following cervical manipulation.

A case of locked-in syndrome following cervical manipulation in a 36-year-old woman is described. The patient had always been healthy but was born with polydactyly on one hand and had 2 mentally retarded children with progressive leucoencephalopathia. Because of pain in the neck the patient was treated with cervical manipulation, during which she became ill and developed a locked-in syndrome, where she was awake but mutistic and totally paralyzed. Following intensive training the patient became able to perform rocking movements with the head, which were used to activate an electronic system for communication. MR scanning 3 months after admission exhibited a sharply demarcated triangular area stretching through most of the pons, which was compatible with a recent infarction.

Adult↗
PubMed1996

Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome.

PURPOSE: To improve the description of the ocular part of the Laurence-Moon-Bardet-Biedl syndrome. METHODS: We examined 44 Scandinavian individuals who all had retinal dystrophy plus at least 2 more of the traditional cardinal signs of the syndrome: obesity, hypogenitalism, polydactyly and mental retardation. RESULTS: Full-field electroretinograms were obtained in 36 of the individuals and were abnormal in all. The dark adaptation thresholds were elevated by on average 3.5 log units. Symptoms of night blindness were observed at a mean age of 4 years and visual problems at daytime at 6-7 years. No one exceeding the age of 16 had a best corrected visual acuity of more than 0.1. In the fundus attenuated vessels were noted at all ages while macular pigmentations and a wax-pale optic disc appeared at age 6-7 years. Pigmentary changes in the midperiphery were noted at the earliest at 13 years of age and appeared mainly as bone spicules, however, in a minority of cases the pigmentations were atypical. Ten of the participants had been followed through a period of 9 years. Their visual acuity was reduced by on average 0.3 line (decimals) and the angle of visual fields by approximate 3 degrees (Goldmann standard object V:4e) per year through the adolescence. CONCLUSION: The ocular disease in Laurence-Mood-Bardet-Biedl syndrome presents early, the prognosis for visual function is poor and the fundus features are atypical and varying.

Adolescent↗
PubMed1996

Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome.

This paper reports a clinical and roentgenological examination of the teeth, jaws and saliva of 29 Scandinavian individuals with Laurence-Moon-Bardet-Biedl (LMBB) syndrome, whose cardinal signs are retinal dystrophy, polydactyly, obesity, hypogenitalism and mental retardation. All subjects had at least three of these signs, including retinal dystrophy. Compared with normal subjects, the group had statistically significantly higher frequencies of hypodontia, small teeth and short roots. In addition, the saliva showed a buffering capacity higher than normal. In conclusion, there seem to exist disturbances of both dental and skeletal formation in the LMBB syndrome.

Adolescent↗
PubMed2002

Integration of a transposon into the Gli3 gene in the Pdn mouse.

The phenotype of the genetic polydactyly/ arhinencephaly mouse (Pdn/Pdn) is similar to Greig cephalopolysyndactyly syndrome (GCPS), whose responsible gene is GLI3. Suppression of Gli3 gene expression has been observed in the Pdn/Pdn and integration of retrotransposon in Gli3 gene in the Pdn mouse has been reported. Thus, the responsible gene for Pdn/Pdn is thought to be Gli3, but the site of mutation within the gene has not been demarcated. In the present study, we demonstrated that 5442 bp of early retrotransposon was inserted into intron 3 of Gli3 gene in the Pdn mouse (Gli3 (Pdn) ). This transposon had almost the same sequence as MMY17106 (EMBL). It had 317-bp long terminal repeat at both ends followed by the identical 6-bp target duplication sequence, GAGACT. Forward and reverse PCR primers were constructed in intron 3 near the insertion point, and a forward primer in the transposon was also constructed. These primers allowed us to discriminate +/+, Pdn/+ and Pdn/Pdn embryos by the PCR products. Morphological determination of the genotypes in the Pdn mouse embryos is impossible before day 12 of gestation. Quick discrimination method of genotypes developed in the present study allows us to investigate the early dysmorphogenetic mechanisms in the brain and limbs in the Pdn/Pdn embryos. Then, the dysmorphogenetic mechanisms in the Pdn/Pdn may be extrapolated to those in GCPS.

Animals↗
PubMed2003

Trend of congenital anomalies over 20 years ascertained by population-based monitoring in Ishikawa Prefecture, Japan.

Monitoring in Ishikawa Prefecture (mean population; 1,150,000), during the 20-year period from 1981 to 2000, involved monitoring the prevalence of congenital anomalies starting at gestational week 22. The main objectives of the present study were (1) to investigate the trend over the past 20 years in the prevalence of congenital anomalies, and (2) to investigate whether there is area accumulation in congenital anomalies or not. In addition, the prevalence of well-known risk factors such as smoking, drinking and family history among cases with congenital anomalies was analyzed to obtain clues to the background of such anomalies. During the 20 years, more than 200,000 births have been observed. Thirty-three selected congenital anomalies, consisting mainly of external anomalies, were analyzed in this study. The percentage of children born with congenital anomalies did not change markedly between the first and second halves of the monitoring period, remaining at approximately 4.5/1,000 births. There was also no significant change in annual trends in either Ishikawa Prefecture as a whole or in the three regions within Ishikawa. The prevalence of congenital anomalies by type showed a significant decrease in anencephaly and spina bifida. In contrast, Down syndrome and microcephaly increased significantly. The mean maternal age for Down syndrome increased significantly from the first-half period to the second-half period. The percentage of children with polydactyly whose mother smoked were relatively higher than that for the other congenital anomalies.

Congenital Abnormalities↗
PubMed1986

Multiple congenital malformations of the face, nervous system and musculoskeletal system of pigs.

Multiple congenital malformations occurred in 21 of 26 pigs (81%) in 3 litters from 2 piggeries. Two of 26 pigs (7%) were mummified while 3 of 26 (11%) were normal. Cheiloschisis was seen in all malformed pigs and was accompanied by various combinations of palatoschisis, arhinencephaly, hypoplasia of the spinal cord, arthrogryposis of the pelvic limbs, polydactyly, renal lesions and cauliflower ears. Histological examination suggested that arthrogryposis was due to neurogenic muscular atrophy. The teratogen was not identified.

Abnormalities, Multiple↗
PubMed2001

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. BBS is considered an autosomal recessive disorder, and recent positional cloning efforts have identified two BBS genes (BBS2 and BBS6). We screened our cohort of 163 BBS families for mutations in both BBS2 and BBS6 and report the presence of three mutant alleles in affected individuals in four pedigrees. In addition, we detected unaffected individuals in two pedigrees who carry two BBS2 mutations but not a BBS6 mutation. We therefore propose that BBS may not be a single-gene recessive disease but a complex trait requiring three mutant alleles to manifest the phenotype. This triallelic model of disease transmission may be important in the study of both Mendelian and multifactorial disorders.

Alleles↗
PubMed1984

The Alström syndrome: ophthalmic histopathology and retinal ultrastructure.

A case of pigmentary retinal degeneration causing blindness in early childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly and with no mental retardation is reported. The results of endocrinological studies, karyotype analysis, and digital dermatoglyphics supported the clinical diagnosis of the Alström syndrome. The patient had small globes, bilateral posterior subcapsular cataracts, lacy vacuolation of the iris, ciliary process hyalinisation, unilateral asteroid hyalosis, total absence of rods and cones, intraretinal melanin pigment, retinal pigment epithelium atrophy, focal chorioretinal fusion, preretinal fibrosis, bilateral giant optic disc drusen, and optic nerve atrophy. Electron microscopy of the retina demonstrated large numbers of melanolysosomes, numerous folds of basement membrane material, disruption of Bruch's membrane, and numerous bundles of extracellular collagen fibrils in the retinal pigment epithelium.

Adult↗
PubMed1980

Hydrocolpos with peritonitis in the newborn.

Two cases of hydrocolpos are described presenting soon after birth. One infant who died on the first day had an intrauterine peritonitis caused by compression of the caecum on the pelvic brim. The other surviving infant developed a caecal perforation secondary to Hirschsprung's disease. Neither infant had rectal atresia, which is the commonest cause of intestinal obstruction in these infants. The association of hydrocolpos with polydactyly in one of these cases may represent an autosomal recessive trait.

Female↗
PubMed1977

Defects of the central nervous system in Finland: I. Variations in time and space, sex distribution, and parental age.

Data from the Finnish Register of Congenital Malformations for the years 1965-73 were used in a search for associations between environmental influences and defects of the central nervous system (CNS). The material consisted of 710 cases of CNS defects and their matched-pair controls. Moreover, and 'internal' control group of 259 cases of polydactyly and their matched-pair controls were used. The first report gives information on variations in time and space, sex distribution, and parental age. A higher incidence of anencephaly was noted in the eastern part of the country, but no significant secular or seasonal variations were found. The sex ratio (M/F) was lower than expected in the groups of anencephaly and CNS defects as a whole. High parental age turned out to be a risk factor in the group of all CNS defects, mainly owing to the subgroup of hydrocephaly. The dangers of observational studies due to confounding factors are discussed.

Adult↗