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PubMed1990

Congenital hand anomalies in Japan: a family study.

During the 20-year period from 1968 to 1987, 1024 patients with congenital anomalies of the hand from 1000 Japanese families were examined in our clinic. Of these patients, 204 had relatives with limb anomalies. While postaxial polydactyly showed a 33% level of familial recurrence, symphalangism and Kirner's syndrome showed about 23% recurrence, syndactyly 18%, radioulnar synostosis 9%, radial ray deficiency 8%, cleft hand 7%, and duplicated thumb 5%. None of the relatives had ulnar deficiency or symbrachydactyly.

Hand Deformities, Congenital↗
PubMed1991

Pollex abductus in hypoplasia and duplication of the thumb.

Pollex abductus is an anomaly in which the flexor pollicis longus attaches not only at its customary insertion, but also into the extensor by a tendon that passes around the radial aspect of the thumb. Contraction of the anomalous flexor abducts the thumb. In the original report, the anomaly occurred in thumb hypoplasia. A similar anomaly is reported in 11 hypoplastic thumbs (35.5% of all cases) and in 9 cases of radial polydactyly (21.4%). The common feature was poor definition of the interphalangeal skin crease, with complete absence of active flexion of that joint. All patients were treated surgically; 13 before the age of 10 months, with correction of the duplication and the hypoplasia, and in the latter with elimination of the abduction deformity and restoration of opposition. The anomalous connection was excised in all patients. Active interphalangeal joint motion after reconstruction of the hypoplastic thumbs averaged 21 degrees.

Adolescent↗
PubMed1993

The treatment of metacarpal synostosis.

One hundred nine patients with metacarpal synostosis were examined to determine the best treatment for this condition. The fourth and fifth metacarpals are most frequently affected, and bilateral involvement occurs often. Many anomalies are associated with synostosis, as well as many syndromes such as Apert's syndrome, central polydactyly, syndactyly, and partial absence of the hand. An osteotomy to split and separate the synostosis, a bone graft to lengthen the fifth metacarpal, collateral ligament reconstruction, and tendon transposition of the extensor digiti minimi quinti all appear to be valuable for the treatment of this rare congenital anomaly.

Abnormalities, Multiple↗
PubMed1984

Effects of acute doses of ethanol on pre- and postnatal development in the mouse.

Investigators on fetal alcohol syndrome (FAS) both clinical and experimental, have generally concentrated attention on chronic alcoholism. In an attempt to elucidate the effects of binge drinking on pre- and postnatal development, single doses of 0.01, 0.02 and 0.03 ml/g body weight of alcohol solutions (25% v/v of ethanol in saline) were administered intraperitoneally to groups of mice on days 8-12 of gestation. Controls were untreated or starved for 6 h. Fetuses collected on day 18 revealed retardation, fetal mortality and craniofacial and digital malformations. While growth retardation and fetal mortality were dose-dependent, malformations were stage-dependent. The 0.01-ml group exhibited only postaxial polydactyly of the forepaw. The reduction in fetal weight of 0.03-ml groups corresponded well with that of umbilical cord length. Following administration of single doses of 0.01 ml/g of ethanol solution on days 8-12, groups of mice were allowed to deliver. Controls were untreated or pairfed and pair watered. Pups were reared by the respective mothers and their survival and growth were observed till postconception day 71 and thereafter brother/sister matings were carried out. At least one pup in each litter remained extremely stunted and failed to reproduce. No significant differences in mortality, growth rates and reproductive capacity of the rest of the pups were observed. It is concluded that single but heavy doses of ethanol during organogenesis leads to a situation reminiscent of human FAS.

Animals↗
PubMed1978

Defects of the central nervous system in Finland: III. Disease and drugs in pregnancy.

The matched pair system of the Finnish Register of Congenital Malformations was used to search for association between defects of the central nervous system (CNS), and maternal diseases and/or drug consumption during pregnancy. The study material consisted of 710 cases with CNS defects and their controls. Significant associations were found for the following conditions: influenza, threatened abortion, depressive state, toxemia of pregnancy, diabetic mothers, and for the consumption of the following drugs: salicylates, pyrazolones/anilines, euphoristic analgesics, sympathomimetics, barbiturates, and cough medicines. 259 cases with polydactyly and their controls were also compared, with a view to demonstrating what biases might be introduced by the case-control method. After utilizing the possibilities of this design for examining the above mentioned significant associations, the factors to be seriously considered were reduced to the following ones: influenza, depressive state, toxemia of pregnancy, diabetic mothers and cough medicines.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Neurologic aspects of the 9p- syndrome.

The 9p- syndrome is a chromosomal disorder which is easily recognized by its characteristic craniofacial features. Neurologic abnormalities are evident in all reported cases, the most common of which is severe mental retardation. We add another case with unusual features including glaucoma, seizures, and polydactyly, and review the somatic and neurologic features from 41 previously reported cases.

Abnormalities, Multiple↗
PubMedDate not supplied

Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis.

Two siblings are described with clinical features of Joubert syndrome associated with unilateral ptosis, severe visual disturbances with normal appearing fundi, and an occipital meningocele; one child also had polydactyly. Neither child manifested responses to electroretinography and one did not manifest visual evoked potentials. The siblings were considered to have characteristics of Leber congenital amaurosis and Joubert syndrome as well as unilateral ptosis. The presence of these findings in siblings suggests a genetic basis for their disease. Careful investigations should be conducted on infants with dysplasia of the cerebellar vermis, including tests for respiratory irregularities, retinal abnormalities, and renal abnormalities to further clarify the interrelationships of these conditions.

Abnormalities, Multiple↗
PubMedDate not supplied

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.

We report a boy and girl with a "new" multiple congenital anomalies/mental retardation syndrome which resemblances Sjögren-Larsson syndrome. Both patients had a concordant pattern of anomalies consisting of congenital lamellar ichthyosis with spontaneous improvement, moderate mental retardation, mild pyramidal involvement, telecanthus, flat facies, stubby long bones, and coxa valga. Severe myopia, ventriculoseptal defect, and postaxial polydactyly were present in the girl who had more severe bone involvement with dense, enlarged metaphyses, vertebral dysplasia, and advanced skeletal maturation of the lower limbs. Long-chain fatty alcohol NAD+ oxidoreductase (FAO) and steroid sulfatase were normal.

Alcohol Oxidoreductases↗
PubMedDate not supplied

Carpal and tarsal bone anomalies in mice induced by maternal treatment of Ara-C.

Pregnant mice of the Jcl:ICR strain were injected intraperitoneally with a single dose of 5 mg/kg of cytosine arabinoside (Ara-C) on dg 10.5. Skeletal changes of the forepaw and hindpaw were evaluated in the offspring on the 15th or 24th postnatal day. Various anomalies of carpal and tarsal bones such as fusion, absence, and deformation occurred at high incidence at a dose that produced digital anomalies. Almost all newborns with Ara-C-induced digital anomalies (oligodactyly or polydactyly) had anomalies of carpal or tarsal bones in the particular paw, while anomalies of carpal or tarsal bones could occur in the presence or absence of digital anomalies. Carpal and tarsal bone anomalies may become a sensitive and novel parameter of limb development in the postnatal teratogen testing system.

Animals↗
PubMed2006

Cilia: tuning in to the cell's antenna.

Cilia are microtubule-based organelles that project like antennae from the surface of most cells in the body. Motile cilia move fluid past cells, for example mucus in the airway. Non-motile primary cilia, however, transduce a multitude of sensory stimuli, including chemical concentrations of growth factors, hormones, odorants, and developmental morphogens, as well as osmolarity, light intensity, and fluid flow. Cilia have evolved a complex ultrastructure to accommodate these diverse functions, and an extensive molecular machinery has developed to support the assembly of these organelles. Defects in the cilia themselves, or the machinery required to assemble them, lead to a broad spectrum of human disease symptoms, including polycystic kidney disease, nephronophthisis, hydrocephalus, polydactyly, situs inversus, retinal degeneration, and obesity. While these diseases highlight the pivotal roles of cilia in physiology and development, the mechanistic link between cilia, physiology, and disease remains unclear.

Animals↗
PubMed2005

Telomere shortening is associated with malformation in p53-deficient mice after irradiation during specific stages of development.

The natural ends of linear chromosomes, the telomeres, recruit specific proteins in the formation of protective caps that preserve the integrity of the genome. Unprotected chromosomes induce DNA damage checkpoint cascades and ultimately lead to senescence both in mouse and man in a p53 dependent manner and initial telomere length setting therefore determines the proliferative capacity of each cell. Yet, only little information is available on telomere biology during embryonic development. We have previously shown that the p53 gene plays a crucial role in the development of malformations (exencephaly, gastroschisis, polydactyly, cleft palate and dwarfism) in control and irradiated mouse embryos. Here, we investigated telomere biology and the outcome of radiation exposure in wild type (p53+/+) and p53-mutant (p53+/-- and--/--) C57BL mouse foetuses irradiated at three different developmental stages. We show that telomeres are significantly shorter in malformed foetuses as compared to normal counterparts. In addition, our results indicate that the observed telomere attrition is primarily associated with p53-deficiency but is also modulated by irradiation, more specifically during the gastrulation and organogenesis stages. In conclusion, we formulate a hypothesis in which telomere shortening is linked to the absence of p53 in mouse foetuses and that when, in the presence of shorter telomeres, these foetuses are irradiated, the chance for the occurrence of developmental defects increases substantially.

Abnormalities, Radiation-Induced↗
PubMed2006

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.

Synpolydactyly (SPD) is an autosomal dominant malformation of the distal limbs caused by mutations in the homeobox gene HOXD13 located on chromosome 2q31. We detail the clinical findings in a consanguineous Pakistani family segregating a HOXD13 7-residue polyalanine tract expansion. Three members of this pedigree were heterozygotes with features typical of SPD. Two further members demonstrate a more severe phenotype consistent with homozygosity for the familial mutation. We also report a child from a consanguineous Somali family homozygous for the same molecular lesion. Characteristic changes include a complex central polydactyly in the hands, abnormal modelling of the metacarpals and metatarsals, an increased number of carpal bones with abnormal shapes, hypoplasia or absence of the fifth digital rays in the feet, hypoplasia of the middle phalanges and abnormally long proximal phalanges in hands and feet. These cases illustrate the distinct phenotype associated with homozygosity for a HOXD13 mutation and also highlight the importance of considering homozygosity for a dominant mutation in consanguineous pedigrees.

Consanguinity↗
PubMed2005

Risk factors of preterm delivery at less than 35 weeks in patients with renal transplant.

BACKGROUND: To identify prenatal events associated with preterm delivery at less than 35 weeks of gestation in women with renal transplant. METHODS: A case-control study of 53 pregnancies in 42 renal transplant recipients, at a single center from 1984 to 2003 was analyzed. Preterm delivery cases (n=23) at less than 35 weeks of gestation were compared with the controls (n=30). RESULTS: Preterm delivery at less than 35 weeks of gestation occurred in 23 cases (43.4%). Hypertension (> or =140/90 mmHg) prior to pregnancy (odds ratio (OR) 6.3, 95% confidence interval (CI) 1.0-38.6), proteinuria (> or =0.3g/day) prior to delivery (OR 11.7, CI 2.7-51.8) and serum creatinine (> or =1.5mg/dl) prior to delivery (OR 4.4, CI 1.0-19.5) were significantly associated with increased risk of preterm delivery. Perinatal or neonatal deaths were not found. Fetal anomaly was seen in one case (polydactyly), and periventricular leukomalacia was found in two cases. CONCLUSION: In this case-control study, hypertension prior to pregnancy, proteinuria and serum creatinine (> or =1.5mg/dl) prior to delivery were related to the occurrence of preterm delivery at less than 35 weeks in renal transplant pregnancies.

Adult↗
PubMed2004

The carpenter syndrome phenotype.

Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory disturbances are not common among Carpenter syndrome patients. According to our knowledge, this is the first Carpenter syndrome case whose hearing loss is demonstrated by auditory brainstem response (ABR) test.

Acrocephalosyndactylia↗
PubMed2006

Familial laryngomalacia in two siblings with syndromic features.

We present two siblings with severe laryngomalacia requiring surgical intervention during the newborn period, microcephaly, developmental delay, cleft palate, preaxial polydactyly, dysplastic nails and conductive hearing loss (persistent after tympanostomy tube placement). In addition the girl has microopthalmia and the boy was born with a patent ductus arteriosus, mild pelviectasis, and hypospadias. This combination of multiple congenital anomalies has not been described previously and may represent a previously undescribed syndrome with autosomal inheritance.

Abnormalities, Multiple↗
PubMed2006

Congenital imperforate hymen and its life-threatening consequences in the neonatal period.

Imperforate hymen is most commonly an isolated finding and usually remains asymptomatic until puberty. Rarely, symptoms of imperforate hymen manifest antenatally as well as in the neonatal period, requiring surgical correction for life-threatening consequences. We report a 5-day-old infant with a large hydrometrocolpos causing severe renal compromise and abdominal ascites, successfully surgically treated in the neonatal period. Associated polydactyly suggested McKusick-Kaufman syndrome.

Adult↗
PubMed2004

Establishing a connection between cilia and Bardet-Biedl Syndrome.

Bardet-Biedl Syndrome (BBS) is a gentic disorder with primary features of retinal dystrophy, obesity, polydactyly, structural and functional renal abnormalities, and learning disabilities. In addition to displaying remarkable pleiotropy, BBS is a heterogeneous disorder with linkage to at least eight loci. The identification of the first five BBS genes provided little insight into BBS protein function. Ansley at al. have now identified a sixth BBS gene (BBS8) and provide evidence that the BBS8 protein and other BBS proteins localize to the basal body of ciliated cells, suggesting that BBS is a ciliary dysfunction disorder.

Bardet-Biedl Syndrome↗
PubMed2004

Function of BMPs in the apical ectoderm of the developing mouse limb.

Several bone morphogenetic proteins (BMPs) are expressed in the apical ectodermal ridge (AER), a critical signaling center that directs the outgrowth and patterning of limb mesoderm, but little is known about their function. To study the functions of apical ectodermal BMPs, an AER-specific promoter element from the Msx2 gene was used to target expression of the potent BMP antagonist noggin to the apical ectoderm of the limbs of transgenic mice. Msx2-noggin mutant mice have severely malformed limbs characterized by syndactyly, postaxial polydactyly, and dorsal transformations of ventral structures indicated by absence of ventral footpads and presence of supernumerary ventral nails. Mutant limb buds exhibit a dorsoventral (DV) and anteroposterior (AP) expansion in the extent of the AER. AER activity persists longer than normal and is maintained in regions of the apical ectoderm where its activity normally ceases. Mutant limbs possess a broad band of mesodermal tissue along the distal periphery that is absent from normal limbs and which fails to undergo the apoptosis that normally occurs in the subectodermal mesoderm. Taken together, our results suggest that apical ectodermal BMPs may delimit the boundaries of the AER by preventing adjacent nonridge ectodermal cells from becoming AER cells; negatively modulate AER activity and thus fine-tune the strength of AER signaling; and regulate the apoptosis of the distal subectodermal mesoderm that occurs as AER activity attenuates, an event that is essential for normal limb development. Our results also confirm that ectodermal BMP signaling regulates DV patterning.

Animals↗