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PubMed1978

Defects of the central nervous system in Finland: V. Multivariate analysis of risk indicators.

Based on the Finnish Register of Congenital Malformations a search was undertaken for associations between defects of the central nervous system [CNS] and various selected risk indicators. The study material consisted of 710 cases of CNS defects and their time-area matched pair controls. 259 cases of polydactyly and their controls were also compared with a view of demonstrating the possible biases introduced by the case-control method. The present report is a multivariate analysis of previously observed associations, and the linear logistic regression model was used for the elimination of confounding factors. Risk indicators remaining after the analysis were high maternal age, multipara with previous stillbirths and defective children, especially defects of the CNS. Maternal influenza, especially in combination with the intake of salicylates, was also associated with an increased risk.

Central Nervous System↗
PubMedDate not supplied

Hereditary multiple malformation in Japanese quail: a possible powerful animal model for morphogenetic studies.

Hereditary multiple malformation (HMM), a new mutation of Japanese quail (Coturnix japonica), is controlled by an autosomal recessive gene. The proposed gene symbol for the mutant gene is hmm. The majority of the homozygotes die at the sixth day of incubation, and the remainder die at various stages by 15 days of incubation. The homozygotes surviving to the late embryonic stage have greatly shortened lower and upper beaks that are set apart and show an early embryo-like body shape, with feather buds but no plumules. Furthermore, they show syndactylous polydactyly in both fore and hind limbs. In the abdomen of the homozygote, a part of the ventriculus, liver, and small intestine protrudes out of the umbilicus region. In the skeleton of the late HMM embryos, ossification is generally delayed and morphogenetic abnormalities are observed all over the body. This mutant seems to become a powerful animal model in the research fields for morphogenesis.

Abnormalities, Multiple↗
PubMedDate not supplied

Mesenchymal dysplasia: a recessive mutation on chromosome 13 of the mouse.

Mesenchymal dysplasia (mes) is a new autosomal recessive mouse mutation that alters normal growth of mesenchyme-derived tissues and provides a new mouse model for studying connective tissue development and defects. Mutants are characterized by preaxial polydactyly of all four feet, a shortened face, wide set eyes, domed head, and a shortened kinky tail. Multiple skeletal defects are seen in alizarin-stained specimens. Histological, areas of mineralization are found in tendons. Mutants also have increased musculature in the shoulders and hips and decreased peritoneal fat. Salivary glands, testes, and kidneys are smaller than in littermates. Mesenchymal dysplasia has been mapped to mouse chromosome (Chr) 13. These mapping crosses also confirmed that the Purkinje cell degeneration (pcd) mutation is on Chr 13.

Abnormalities, Multiple↗
PubMedDate not supplied

Mutant allele frequencies among domestic cats in some eastern areas of Canada: regional homogeneity of factors in Canadian Atlantic Provinces and the French colony of Saint Pierre.

Surveys to determine mutant allele frequencies in domestic cats of the Canadian Atlantic Provinces (Halifax, Nova Scotia; Fredericton, New Brunswick; Charlottetown, Prince Edward Island; St. John's Newfoundland) and the French colony of Saint Pierre, Saint Pierre et Miquelon, reveal a general regional homogeneity for most factors. Despite diverse historical patterns of settlement, a strong common component of origin is indicated. This is tentatively identified as late 18th and early 19th century British. One mutant, polydactyly, which is of New England origin appears to have been distributed largely by loyalist refugees from New England at the time of the American Rebellion. No elements of a specific Acadian (French) character have yet been identified. Siamese cats have been "introduced" to the region in recent years and are now so abundant that they will undoubtedly cause a significant change in some mutant allele frequencies over the next few decades. Interregional exchanges of cats no doubt are contributing to homogenizing the populations of the area, but the practice of sterilization of pets offsets this to some degree.

Alleles↗
PubMed1994

Birth defects in relation to threatened abortion.

The evidence for the association between threatened abortion and birth defects is limited and inconsistent. This study examined this relation using data from the Shanghai Birth Defects Monitoring Program. A total of 1,013 cases of birth defects and an equal number of controls were analyzed. Our study showed that women with threatened abortion had a 50% higher risk of having a baby with birth defects compared with those without this complication, controlling for other factors (adjusted odds ratio = 1.5; 95% confidence interval = 1.1-2.1). Threatened abortion was generally related to defects of the urogenital system, heart and circulatory system, and musculoskeleton and limbs and was specifically associated with polydactyly, undescended testicle, and hypospadias.

Abortion, Threatened↗
PubMed2002

Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations.

The oral-facial-digital syndromes (OFDS) represent a heterogenous group of disorders characterized by oral malformation, facial anomalies, and digital anomalies. Type II OFDS was reported by Mohr in 1941. Mohr syndrome is an autosomal recessive inherited disease characterized by median cleft lip, poly lobed tongue, absence of medial incisors, and polydactyly of hands and feet. Some other different expressive types of OFDS cases have been reported, and identified with 11 different clinical entities up to the present. Until now, only three cases of OFDS II in Japanese patients have been detected except for our patient. At this time, we observed a Japanese patient of Mohr syndrome with median cleft lip and tongue, hypertrophied frenula, absence of left medial incisor, and bilateral bifidity of great toe. Lip and tongue plasty was performed at 7 months after birth and toe plasty was done at 11 months with good results.

Female↗
PubMedDate not supplied

The newborn foot: diagnosis and management of common conditions.

An assessment of the foot should be a part of every newborn physical examination. The newborn foot, although complex in structure, can be examined quickly in any office setting. Many foot deformities are diagnosed immediately after birth, allowing for earlier and often more successful treatment. A neonate with a foot deformity can be a source of anxiety to parents. Adequate knowledge of commonly encountered neonatal foot problems enables the nurse to give appropriate anticipatory guidance to the parents. Foot abnormalities usually occur as isolated findings in an otherwise healthy newborn. However, these deformities can also be seen in newborns with underlying neuromuscular disorders and syndromic conditions. Common newborn foot abnormalities include equinovarus deformity (clubfoot), metatarsus adductus, calcaneovalgus, congenital vertical talus, polydactyly (supernumerary digits), and syndactyly (webbed toes). These common foot disorders, their treatment, and their prognosis are discussed. This article also discusses fundamental nursing implications needed to care for these young patients and their families.

Algorithms↗
PubMed1976

Triphalangeal thumb.

In the last 6 years, I have seen 29 patients (37 hands) who had an additional phalanx between the two other phalanges of their thumbs. These triphalangeal thumbs can be divided into opposable and nonopposable thumbs. The epiphyseal plate of the first metacarpal is at the proximal end in the opposable triphalangeal thumb, at the distal end in the nonopposable triphalangeal thumb, at both the distal and proximal ends in the complicated split hand, and at the proximal end in the complicated preaxial polydactyly. Treatment of these cases is described, as well as theories about the origin of the deformity.

Child, Preschool↗
PubMed1998

Genetics of limb development and congenital hand malformations.

The vertebrate limb bud develops along three different axes: proximodistal, anteroposterior, and dorsoventral. Several genetic factors responsible for control of each of the three limb axes have been identified. The genes involved interact in complex feedback loops to achieve proper arrangement and differentiation of tissues. Most of the available information on limb development and patterning has come from studies carried out in the lower vertebrates. In recent years, an increasing number of studies have been unraveling the genetic basis of human hand malformation phenotypes. At present, genes responsible for preaxial polydactyly, split hand/split foot malformation, and brachydactyly type C have been localized, and the gene responsible for synpolydactyly has been identified. In this paper, we present an overview of the genetic factors involved in limb development, followed by summarized discoveries in the genetics of human congenital hand malformations.

Arm↗
PubMed2000

Dandy-Walker anomaly in Meckel-Gruber syndrome.

We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus. The main neuropathological finding at autopsy was in a very large cyst located in an abnormally wide posterior cranial fossa consistent with a Dandy-Walker anomaly. Intestinal malrotation, enlarged cystic dysplastic kidneys and hepatic portal fibrosis coexisted. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms a disturbance in rhombencephalon development. Although uncommon, it should be included among the central nervous anomalies representative of the syndrome.

Abnormalities, Multiple↗
PubMed2004

Treatment of the triphalangeal thumb.

Triphalangeal thumb is a thumb with 3 phalanges and has an estimated incidence of 1 in 25,000 live births. Clinical presentation of triphalangeal thumb can vary considerably. Most strikingly is the long finger-like thumb with clinodactyly, in the same plane as the fingers and may or may not present with an extra thumb. Anatomically, the extra phalanx can have different shapes, from wedge to rectangular. Furthermore, the involved joints, ligaments, muscles, and tendons of the first ray, from distal interphalangeal joint to radiocarpal joint, can be hypoplastic, malformed, or absent with varying degrees of stiffness or instability. Also, the first web can be insufficient, and radial polydactyly as well as other hand deformities can be present. The aim of surgical treatment is to try to reconstruct or correct the anatomic difference and at the same time provide a more acceptable appearance. In our series, depending on the malformation, operations varied from removal of the delta phalanx with ligament reconstruction to multiple osteotomies and rebalancing as well as pollicization. Complications are mostly related to structures that have not been reconstructed or corrected during operation. Results in these often complex cases can be rewarding if the surgeon has sufficient knowledge of the underlying anatomic differences.

Journal Article↗
PubMedDate not supplied

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

PURPOSE: Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal-dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, calcification of the falx cerebri, and spine and rib anomalies. NBCCS is due to mutations in PTCH1, the human homologue of the Drosophila segment polarity gene patched. Mutations are detected in approximately 60% to 85% of individuals tested by sequencing of PTCH1; therefore, clinical examination and x-rays remain important in diagnosis of NBCCS. METHODS: We studied 82 NBCCS patients and 38 of their unaffected siblings at the NIH between 1985 and 1994. Chest, rib, spine, skull, hand and foot x-rays, brain MRI or CT, and pelvic ultrasound (in females) were obtained in the affected individuals and compared to their unaffected relatives. RESULTS: The following features were significantly more frequent in those with NBCCS: calcification of the falx cerebri, the most frequent radiological feature, was present in 79% of patients > 20 years and in 37% <20 years, calcification of the tentorium cerebellum was present in 20%, bridging of the sella in 68%, and abnormal frontal sinus aeration in 18% of affected individuals. Bifid ribs most often involving the third, fourth, and fifth ribs were seen in 26%; splayed, fused, and misshapen ribs in a further 16%, and widened ends of clavicles in 12%. Spine X-rays revealed calcification of the nuchal ligament in 18%, fusion of vertebrae in 10%, and hemivertebrae in 15%. Flame-shaped lucencies of the metacarpals and/or phalanges were present in 30%, modeling deformities of the phalanges in 14%, and polydactyly of the feet in 4%. The frequency of scoliosis, cervical ribs, absent or rudimentary ribs, spina bifida occulta, or short 4th metacarpal was not higher in the affected individuals as compared to their unaffected relatives. Except for falx calcification, the frequency of radiological manifestations was similar in different age groups. Cranial CT or MRI in 42 affected individuals revealed asymmetric or dilated ventricles in 24%, cerebral atrophy in 10%, cavum septum pellucidum in 19%, dysgenesis or agenesis of the corpus callosum in 10%, and meningioma in 5%. Ovarian fibromas were detected in 17% of females. CONCLUSIONS: This study reports the varied radiological manifestations of NBCCS. In the absence of major features such as basal cell carcinomas, jaw cysts, or falx calcification, which is often not evident until the teen years, other radiological manifestations of the disorder can permit early diagnosis of NBCCS in childhood. This will allow optimum surveillance for medulloblastoma and other neoplasms (cardiac fibromas and basal cell carcinomas) associated with NBCCS.

Adolescent↗
PubMedDate not supplied

Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

PURPOSE: This study determines which clinical features predict positive test results among samples submitted for DNA-based diagnostic nevoid basal cell carcinoma syndrome (NBCCS) testing, and further defines the mutational spectrum of the PTCH gene. METHODS: DNA was extracted from peripheral blood leukocytes, and polymerase chain reaction products from exons 1 to 23 of the PTCH gene were directly sequenced. Pedigree phenotypic information was obtained by written questionnaire. RESULTS: Among 106 presumably unrelated pedigrees, 44 independent mutations were found in 47 families. There were 11 nonsense mutations; 1 in-frame deletion; 17 deletions, 6 insertions, and 1 deletion-insertion that generated frameshifts; 5 splice-site mutations; 1 in-frame duplication; and 2 presumptive missense mutations. Twenty-seven of 46 pedigrees (58.7%) with two or more typical radiographic or pathologic features of NBCCS tested positive for PTCH mutations. Of these, 26 had jaw cysts in combination with other characteristics or neoplasms including basal cell carcinomas, palmar pits, skeletal abnormalities, ocular abnormalities, medulloblastomas, cardiac or ovarian fibromas, calcification of the falx cerebri, polydactyly, cleft lip and/or palate, and agenesis of the corpus callosum or other central nervous system malformations. None of the 13 pedigrees solely affected by multiple or early-onset basal cell carcinomas and none of the four pedigrees with jaw cysts alone had PTCH mutations. CONCLUSIONS: Pedigrees with multiple features of NBCCS were most likely to test positive for PTCH mutations. Pedigrees with multiple or early-onset basal cell carcinomas without other features of the disease did not test positive for PTCH mutations.

Adolescent↗
PubMed2006

Pseudotrisomy 13 syndrome: a case with left ventricular hypoplasia and duodenal stenosis.

We report a case of a female child born at 32 weeks of gestation. Birth weight was 1200 g (<3rd centile), length 40 cm (10th-50th centile) and head circumference 23.5 cm (<3rd centile). Clinical examination revealed microcephaly, hypotelorism, microphthalmia, a flat rudimentary nose with a single nasal cavity, high palate, thick dysplastic low-set ears, a short neck, postaxial polydactyly of the upper limbs, and single palmar creases. Investigations showed alobar holoprosencephaly, absence of the third ventricle and midline structures of the brain, microphthalmia, hypotelorism, left ventricular hypoplasia, a large atrial septal defect, and duodenal stenosis. The karyotype was 46,XX. A hypoplastic left ventricle and duodenal stenosis have not been previously reported in pseudotrisomy 13 and this case might aid in the further delineation of this syndrome.

Chromosomes, Human, Pair 13↗
PubMed2006

Mild case of Curry-Jones syndrome.

The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel. Developmental delay occurs in half of the reported patients. The patient reported here has a mild form of the condition with polysyndactyly and skin changes but no craniosynostosis, bowel problems or developmental delay.

Abnormalities, Multiple↗
PubMed2004

Linguistic and gait disturbance in a child with Laurence-Moon-Biedl syndrome: left temporal and parietal lobe hypoplasia.

Laurence-Moon-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, hypogenitalism, mental retardation, and renal abnormalities. We report the linguistic and gait disorders in a child with Laurence-Moon-Biedl syndrome associated with left temporal and parietal hypoplasia as determined by magnetic resonance imaging. Our patient was mildly mentally retarded, scoring better on the performance subtest than on the verbal subtest. He received serial assessments for developmental, language, speech, and gait functions, before and after rehabilitation, at age 4.5 and 6 yr, respectively. After comprehensive rehabilitation, the boy achieved improvement in speech, language, fine motor, and gait functions. Early comprehensive rehabilitation programs seem beneficial for improving functional development for children with Laurence-Moon-Biedl syndrome.

Child, Preschool↗
PubMed1998

'Epiphyseal dysgenesis' in Laurence-Moon-Biedl-Bardet syndrome.

Ten patients with Laurence-Moon-Biedl-Bardet syndrome were investigated. They all belonged to one large family within which several intermarriages had taken place. We found that, apart from the already described abnormalities, these patients suffered from dysgenesis of the following epiphyses: vertebrae, proximal femur, proximal tibia, capitellum, tarsal navicular, and the distal epiphysis of the first metatarsal. The degree of polydactyly, a prominent feature of this syndrome, varied from patient to patient, ranging from a wide fifth metatarsal or metacarpal to a complete sixth digit. As in other epiphyseal dysgenesis, a pseudoepiphysis of the distal first metacarpal was present. One patient (the eldest) was tetraparetic due to severe spinal stenosis.

Adolescent↗