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PubMed1986

A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome.

Twenty-five children with Apert's syndrome, characterised by craniosynostosis and symmetrical syndactyly of hands and feet, were seen by a psychosocial team. The patients ranged in age from 1 month to 15 years. All had undergone synostosis release in the first year of life and were being assessed for craniofacial reconstructive surgery. Psychosocial adjustment was evaluated using a semistructured interview, psychometric testing. Piers-Harris Self-concept Inventory and Hay's Appearance Rating Scale administered by a team consisting of a child psychiatrist, psychologist and social worker, 6 months before surgery and 1, 2 and 4 years after surgery.

Acrocephalosyndactylia↗
PubMed1987

Multiple seagull flaps for digital contractures in electrical burns.

Following legislation in the early 1970s, electrical bar fire burns are much less common in the UK than 20 years ago. However, their long-term effects are still encountered as microdactyly, syndactyly and digital flexion contractures. A case is described in which multiple seagull flaps were used as a single stage procedure to achieve sustained improvement in function in a severely affected hand, 10 years after injury, without prolonged postoperative daytime splintage.

Burns, Electric↗
PubMed1988

Congenital ring-constriction syndrome of the limbs; a report of 19 cases.

The authors report 19 cases of congenital ring-constriction syndrome of the limbs. Complications arose in eight of the pregnancies. The limb anomalies were always congenital ring-constrictions together with distal amputation. Moreover, 13 patients also had syndactyly and 15 associated anomalies were registered in 9 patients--8 of the limbs, 3 craniofacial and 4 visceral. One patient had a family history of hypospadias and cardiac malformation. Treatment usually required several operations, staged Z-plasty being the procedure of choice in surgical release of constriction bands. The acrosyndactylies were released early in life. More extensive fusions required division and skin grafting even if the webs did exist. The aetiology of the condition is still under discussion. The number of cases in the literature that cannot be explained by the exogenous theory of the congenital ring-constriction syndrome is increasing. Among them are four cases in our series.

Abnormalities, Multiple↗
PubMed1987

Short-term rescue by RNA injection of a mitotic arrest mutation that affects the preimplantation mouse embryo.

The mutation oligosyndactyly results in syndactyly, abnormal fusion and insertion of certain limb muscles, and diabetes insipidus in heterozygous mice. When homozygous the mutation is lethal; beginning at the blastocyst stage, the homozygous cells arrest in metaphase with intact spindles. The mutant phenotype cannot be corrected by forming aggregation chimeras with wild-type cells, suggesting that the mutation results in a cell autonomous lethal condition. Short-term rescue of the homozygous-induced mitotic arrest can be achieved, however, by cytoplasmic injection of polyadenylated RNA obtained from a rapidly dividing embryo-derived stem cell line.

Animals↗
PubMed1975

An unusual form of spinal muscular atrophy with mental retardation occurring in an inbred population.

Three sibs are described suffering from hereditary non-progressive spinal muscular atrophy with non-progressive mental retardation. One of them had in addition signs of pyramidal tract involvement. Muscular weakness was more pronounced proximally than distally and the neck muscles were severely involved. Th.ey all had small skulls and several associated congenital malformations were observed including syndactyly of the left hand in 1 patient. The patients belong to a small inbred community in the Netherlands. Erythropoietic protoporphyria was also present in the family but segregated independently. This combination of "congenital" mental retardation with "congenital" non-progressive spinal muscular atrophy is believed to represent a new syndrome, caused by a rare recessive gene.

Adult↗
PubMed1995

Limb defects after chorionic villus sampling.

OBJECTIVE: To clarify the association between limb defects and chorionic villus sampling (CVS). METHODS: Questionnaires were sent to 165 major obstetric units in Taiwan to survey the incidence of limb defects with and without CVS exposure during 1991. Limb defects with CVS exposure from September 1990 to June 1992 were also surveyed. The spectrum of limb defects in CVS-exposed and general populations were compared by the Poisson test. RESULTS: The incidence of limb defects in the surveyed general population in 1991 was 0.032% and that with CVS exposure was 0.294%, a statistically significant difference (P < .001). The incidence of severe limb defects in the general population was 0.0026% and that with CVS exposure was 0.22%, also statistically significant (P < .001). Twenty-nine cases of limb defects after CVS were reported from September 1990 until June 1992: 19 cases with transverse limb reduction, two with mid-palm reduction, seven with adactyly or hypodactyly, and one with syndactyly. Four cases also had oromandibular-limb hypogenesis syndrome. CONCLUSIONS: The incidence of limb defects, especially the severe types, was increased after CVS. The spectrum of limb defects with CVS exposure was more severe than the limb defects seen in the general population and showed a specific pattern ranging from hypodactyly, adactyly, and transverse limb reduction, to oromandibular-limb hypogenesis. A correlation between the severity of limb defects and the timing of CVS was suggested.

Abnormalities, Multiple↗
PubMed1977

Epidermolysis bullosa dystrophica polydysplastica. A case of anesthetic management in oral surgery.

Epidermolysis bullosa dystrophica is a rare disease that affects the skin and mucous membranes. Manifest at birth, it is characterized by poor dentition, esophageal strictures, syndactyly, and severe chronic anemia. Our 12-year-old patient required extensive dental treatment which necessitated overcoming problems of anesthesia as well as developing a technique of management that provided maximum safety and a minimum of discomfort. Transmission electron microscopy of sections of the gingiva revealed possible degenerative collagen fibers and an interrupted basement membrance. Anchoring fibrils normally found in the connective tissue beneath the epithelium were absent.

Anemia↗
PubMed1988

Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations.

The phenotype and pattern of inheritance of craniofrontonasal dysplasia were analyzed in 66 affected persons from 18 families, including one four-generation kindred personally studied. Females were more severely affected than males. Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails. Males had increased bony interorbital distances and distances between the inner canthi of the eyes, broad nasal root, broad halluces, and vertical grooving of nails but no craniosynostosis. Affected men transmitted the condition to all of their daughters but to no sons, while affected women transmitted the disorder to about half their daughters and half their sons. This pattern is compatible with X-linked dominant inheritance, but the far milder manifestation of the syndrome in males cannot be explained by simple mendelian genetics.

Abnormalities, Multiple↗
PubMed1985

Developmental phase-specific and dose-related teratogenic effects of ethylene glycol monomethyl ether in CD-1 mice.

Several animal species have shown a teratogenic response to inhaled or ingested ethylene glycol monomethyl ether (EGME). The present study examined the developmental phase specificity and dose-response characteristics of EGME-induced embryotoxicity. Pregnant CD-1 mice (vaginal plug positive day = gestation Day [gd]0) received multiple or single doses of EGME by gavage between gd 7 and 14. Fetuses were examined on gd 18 for external and skeletal malformations. EGME was not maternally toxic after multiple doses of 250 mg/kg or a single administration of up to 500 mg/kg. EGME induced embryotoxicity as manifested by reduced gd 18 fetal weights and increased resorptions. The observed malformations were specifically related to the developmental stage at the time of exposure. Exencephaly resulted after EGME exposure between gd 7 to 10 whereas paw anomalies (syndactyly, oligodactyly, and stunted digit No. 1) predominated during later stages of development. Paw anomalies were maximal after administration on gd 11, and forepaws exhibited greater susceptibility than hindpaws. The no observed effect dose for the induction of digit malformations after a single administration of EGME on gd 11 was 100 mg/kg. At 175 mg EGME/kg digit anomalies were induced without any concurrent reduction in fetal body weight while at 250 mg/kg and above, digit anomalies occurred concurrently with reduced fetal body weight.

Abnormalities, Drug-Induced↗
PubMed1986

Teratogenic effect of calcium edetate (CaEDTA) in rats and the protective effect of zinc.

The calcium chelate of EDTA (CaEDTA) currently is the drug of choice in the treatment of lead intoxication. This study investigated the teratogenic potential of CaEDTA, administered parenterally during periods of organogenesis and determined if incorporating zinc into EDTA would protect against teratogenic effects. Four doses (2, 4, 6, and 8 mmol/m2/day) of CaEDTA, two concentrations (8 and 20 mmol/m2/day) of ZnEDTA and ZnCaEDTA (molar ratio 0.5:0.5:1) were used, and a saline control (0.9% NaCl). Timed-pregnant Long-Evans rats were assigned at random to the treatment groups, 20 per dose for each chelate and 30 to the saline control. Rats were injected with the chelate or saline solution sc, twice daily during the 11th through 15th days of gestation. Pups removed by cesarean section on the 21st day were processed for osseous and visceral examination. Additional animals per treatment group were used for maternal plasma and liver and fetal zinc determinations. Results showed increases in several abnormalities (submucous cleft, cleft palate, adactyly-syndactyly, curly tail, abnormal rib and vertebrae) with increasing amounts of CaEDTA. No malformations were seen with ZnEDTA at either dose or with ZnCaEDTA at 8 mmol/m2/day. However, submucous cleft was seen in 6 of 20 litters from the dams receiving the higher dose of ZnCaEDTA. It was concluded that CaEDTA is teratogenic in rats at concentrations which, except for decreased weight gain, produce no discernible toxicity to the dam, and which are comparable to the recommended therapeutic dosage in humans (1500 mg/m2/day corresponding to 4 mmol/m2/day). Protection is afforded by incorporating zinc in the chelate.

Abnormalities, Drug-Induced↗
PubMed1989

The developmental toxicity of an isolate from the plant Solanum dimidiatum (potato-weed) in Syrian golden hamsters.

The developmental toxicity of an ethanol extract from Solanum dimidiatum was investigated in date-bred Syrian golden hamsters. Neural tube defects were seen in three Syrian golden hamster fetuses, from one litter out of 12, at a maternal dose of 1.52 mg of plant isolate per g of body weight. Other malformations observed were syndactyly in a single fetus, from one litter out of ten, in the 0.45 mg/g dose group and gastroschisis in a single fetus, from one litter out of nine, in the 1.01 mg/g dose group. These findings suggest minimal developmental toxicity for this plant isolate.

Animals↗
PubMed1981

Hearing loss in Pfeiffer's syndrome.

A 14-year-old boy with conduction hearing loss, acrocephaly, minimum syndactyly, broad thumbs and big toes is classified as being affected with a form of acrocephalosyndactyly, termed Pfeiffer's syndrome (McK+10160) [12]. It is the first case of this syndrome presented in the otorhinolaryngological literature. During exploratory tympanotomy, the ossicular chain was found to be fixed. The incus seemed to be fixed in the epitympanum and there was ankylosis of the stapes. After antrotomy during a first stage, stapedectomy and teflon interposition during a second stage the air-bone gap disappeared. Multidirectional polytomography of the inner ear, performed preoperatively, was normal with the exception of a markedly local bilateral dilatation of the internal acoustic meatus. Although this case is a sporadic one, the mode of inheritance of this syndrome is autosomal dominant.

Acrocephalosyndactylia↗
PubMed1996

Otolaryngologic manifestations of multiple pterygium syndrome.

Escobar Syndrome, or Multiple Pterygium Syndrome (MPS), is a rare syndrome with multiple congenital anomalies involving the head and neck area and limbs. Affected individuals have multiple pterygia, camptodactyly and/or syndactyly as the main features of this syndrome. Patients with MPS have a characteristic facies, including ptosis, antimongoloid slant of the palpebral fissures, hypertelorism, micrognathia, neck pterygia, and a sad flat, emotionless look to the face. We present a case of MPS recently treated at our institution for the purpose of further describing the clinical features of this syndrome, emphasizing the otolaryngologic manifestations. Increased awareness of MPS will facilitate appropriate management of this syndrome.

Abnormalities, Multiple↗
PubMed1992

Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs.

BACKGROUND: The association of hair shaft abnormalities with the phenotypic findings of a new, distinct form of an autosomal recessive syndrome of ectodermal dysplasia was present in 27 patients from seven families. OBJECTIVE: Our purpose was to present the cutaneous findings that characterize this syndrome with particular attention given to the hair shaft abnormalities. METHODS: Multiple field visits were used to gather data on phenotypic findings and prospectively evaluate their prevalence. RESULTS: Corkscrew hair, an exaggeration of pili torti, represents the most striking feature of this syndrome. Prominent cutaneous findings include scalp keloids, follicular plugging, keratosis pilaris, xerosis, eczema, palmoplantar keratodermia, cutaneous syndactyly, onychodysplasia, and conjunctival neovascularization. Other features include typical facies, anteverted pinnae, malar hypoplasia, cleft lip and palate, and dental abnormalities. CONCLUSION: A syndrome characterized by pili torti and corkscrew hairs, previously reported in only one patient, can be recognized.

Adolescent↗
PubMed1995

Dystrophic epidermolysis bullosa inversa: report of two cases with further correlation between electron microscopic and immunofluorescence studies.

Dystrophic epidermolysis bullosa inversa is a rare form of epidermolysis bullosa characterized by blister formation in flexural skin areas and by marked oral and esophageal involvement. Recognition of this subset of dystrophic epidermolysis bullosa is important, because its prognosis differs from all other forms of dystrophic epidermolysis bullosa. Investigators recently reported normal staining with antibodies directed against type VII collagen in 14 patients, but electron microscopy in eight patients showed diminished or absent anchoring fibrils. We report here the cases of two additional patients with dystrophic epidermolysis bullosa inversa. One patient had finger web space scarring that required surgical correction and mild syndactyly of toes. Both patients had normal staining with LH 7:2, but electron microscopy showed diminished and rudimentary anchoring fibrils. These findings support the possibility that dystrophic epidermolysis bullosa inversa may be caused by a structural abnormality of type VII collagen that prevents proper assembly of collagen into distinct anchoring fibrils.

Adolescent↗
PubMed1985

The teratogenic interaction of hydroxyurea and 5-bromodeoxyuridine examined with the aid of limb culture and image analysis.

Pregnant mice were treated on gestation Day 11 (E11) with a single dose of either hydroxyurea (HU, 250 mg/kg) or 5-bromo-2'deoxyuridine (BrdU, 500 mg/kg), or with a combination of the two agents. The dams were either allowed to go to term, when the fetuses were examined for cleft palate (CP) and digital anomalies, or killed 24 hr after the treatment. In the latter case, limbs from the embryos of control and treated dams were excised and cultured for 6 days in submerged culture. At the end of the culture period, the limb explants were stained for cartilage. The various cartilaginous components were subsequently analyzed using image analysis methods. CP was observed in 2.4 and 22.9% of the fetuses, respectively, after a single dose of HU or BrdU on E11. Simultaneous HU + BrdU treatment decreased the incidence of BrdU-induced CP to 3.6%, while treatment with BrdU 3 hr after HU resulted in 33.3% CP. In addition, syndactyly and ectrodactyly, not seen after the treatment with either HU or BrdU alone, were observed when the two agents were administered simultaneously, 1 hr apart or with a 3-hr delay. The teratogenic response was enhanced when limbs were cultured for 6 days. Digital anomalies were observed in the limb explants of BrdU-pretreated embryos; such abnormalities were not observed in vivo. Image analysis of cultured limb explants revealed that with HU-3 hr-BrdU pretreatment, the total limb area occupied by the long bones was increased at the cost of the paw area. However, no consistent changes in the shape or form of individual bones were observed. HU and BrdU given together produced a teratogenic response which was significantly different from that observed following the administration of HU or BrdU alone. This is considered to be due to an interference with the incorporation of BrdU in the DNA, since HU is known to block DNA synthesis. When HU was given before BrdU, the effects of BrdU were enhanced, probably due to the reported synchronizing action of HU on dividing cells. We also found that after a similar in utero exposure, the culture conditions themselves enhanced the frequency of teratogenic expression of BrdU.

Abnormalities, Drug-Induced↗
PubMed1991

Developmental toxicity of inhaled methyl ethyl ketone in Swiss mice.

Methyl ethyl ketone (MEK) is a widely used industrial solvent to which there is considerable human exposure. To assess the potential for MEK to cause developmental toxicity in rodents, groups of Swiss (CD-1) mice were exposed to 0, 400, 1000, or 3000 ppm MEK vapors 7 hr/day on Days 6-15 of gestation. Groups consisted of about 30 bred females each. Exposure of pregnant mice to these concentrations of MEK did not result in overt maternal toxicity although there was a slight, treatment-related increase in relative liver weight which was statistically significant in the 3000 ppm group. Mild developmental toxicity was observed in the 3000 ppm group in the form of a reduction in mean fetal body weight. This reduction was statistically significant for the males only, although the relative decrease from the control values was the same for both sexes. There was no increase in the incidence of resorptions or the number of litters with resorptions among mice exposed to MEK. There was no significant increase in the incidence of any single malformation, but several malformations which were not observed in the concurrent control group or the controls of contemporary studies were present at a low incidence--cleft palate, fused ribs, missing vertebrae, and syndactyly. There was also a significant trend for increased incidence of misaligned sternebrae, a developmental variation. In summary, pregnant Swiss (CD-1) mice were relatively insensitive to the toxic effects of MEK at the inhaled concentrations used in this study. However, the offspring of the mice exhibited significant signs of developmental toxicity at the 3000 ppm exposure level.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Drug-Induced↗
PubMed1981

Experimental formation of cleft palate in mice with polychlorinated biphenyls (PCB).

The teratological effect of polychlorinated biphenyls (PCB) was examined using the ddY strain of mouse. PCB in 0.05 ml ethanol was injected daily, subcutaneously into the back of pregnant mice, for 10 days from day 6 of gestation. Cleft palates were found in fetuses at the 18th gestation, with a significant dose response between 10 mg and 50 mg as total body dose of PCB per pregnant mouse. Comparison of these results with simultaneous observations of body weight of dam or fetus, and number of resorbed and dead fetuses, indicated that cleft palate formation was due mainly to the specific effect of PCB and not to its general toxicity. Cleft lip, brachydactyly, and syndactyly were also found. In the control mice receiving no PCB and no treatment, no external malformations were found in 1765 live fetuses. These results demonstrate a teratogenic effect of PCB in the ddY strain of mouse after subcutaneous injection.

Animals↗