SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
We report a fetus with hydrops, ectrodactyly, syndactyly, duplication of the great toes and several other features. From a review of the literature we suggest that this constellation of abnormalities has not previously been reported.
Pregnant rabbit does received daily oral doses of 6.2 or 18.6 mg/kg cyclophosphamide (CP) on days 6-20 of gestation. On day 29, shortly before term, the uterine content was removed by Caesarean section. At the dose of 6.2 mg/kg CP maternal mortality was 2/9 does and at 18.6 mg/kg CP one abortion was recorded. Body weight gain of pregnant females was essentially unaffected by CP treatment. Both doses of CP elicited significant dose-dependent decrease of fetal body, organ (heart, lung, liver, kidney) as well as placental weight. After treatment with 18.6 mg/kg CP, gross examination of fetuses revealed significantly increased incidence of exophthalmos, cleft palate/lip, syndactyly, and brachycardia. Skeletal anomalies and malformations, significantly increased after the higher CP dose, included sternebrae, back-bone and limb defects. Oral administration of CP to rabbits in the dose of 18.6 mg/kg during organogenesis resulted in pronounced embryotoxic and teratogenic changes.
Pfeiffer's syndrome is an autosomal dominant disorder characterized by craniofacial abnormalities and distal extremity abnormalities. This case study reviews four generations of a family with craniofacial abnormalities, multiple simple syndactylies, and delta phalanges of bilateral great toes and thumbs inherited in an autosomal dominant fashion.
An epidemiologic study of shigellosis was the preliminary step in the formulation of a plan for the control of devastating infectious diseases in nonhuman primates at the National Zoological Park. Data were collected from primate groups with enzootic shigellosis and included the following species: white-cheeked and siamong gibbons (Hylobates concolor and H syndactylies); lion-tailed, celebes, and Barbary macaques (Macaca silenus, M nigera, and M sylvanus); black and white colobus monkeys (Colobus guerzea); grey-cheeked mangabeys (Cerecocebus albigena); spider monkeys (Ateles susciceps robusuts); ruffed lemurs (Lemur varrigatus); lowland gorillas (Gorilla gorilla); and orangutans (pongo pygmaeus). Data included results of physical examination, proctoscopy with biopsy, fecal parasitologic and cytologic examinations, and bacteriologic culturing of swabbed specimens of rectum and gingiva. Repetitive fecal examinations were subsequently performed and included bacteriologic culturing of fecal specimens for enteropathogenic bacteria and parasites and cytologic examination of feces. Data were collected for a 1-year period from 82 primates, and 14 gibbons were studied intensively. White-cheeked and siamang gibbons shed Shigella flexneri sporadically, but persistently. All gibbons were affected with a mean point prevalence of 30.7% (range 0 to 71%). Shigella flexneri also was isolated from feces of lion-tailed macaques. Shigella sonnei was isolated from feces of grey-cheeked mangabeys, celebes macaques, and spider monkeys.(ABSTRACT TRUNCATED AT 250 WORDS)
A "delta phalanx" is often not triangular but may be trapezoidal. A "delta phalanx" may be present without a supernumerary digit. It is a form of complex syndactyly. Correction of the deformities of "delta phalanz" is obtained by open wedge osteotomy with excised bone fragments used as a graft and Z-plasty of the skin on the ulnar side of the finger.
The case is presented of a 2-week-old boy with polydactyly occurring on the ulnar and fibular sides of the four extremities, which can be defined as tetrapolydactyly of postaxial type . Although the condition was not associated with syndactyly, it appears to represent a further example of a previously described anomaly, which was labelled tetrapolysyndactyly with postaxial type of polydactyly.
Laurence-Moon-Bardet-Biedl (LMBB) syndrome is a symptom complex that usually presents with retinitis pigmentosa, poly- or syndactyly, mental retardation, obesity and hypogenitalism. Cotard's syndrome is a state in which the central symptom is a delusion of negation. The case reported here is a combination of these two rare conditions.
Apert syndrome, acrocephalosyndactyly Type I, is an autosomal dominant craniosynostosis comprising acrocephaly, facial dysmorphism and severe syndactyly of the hands and feet. Missense mutations at codons 252 and 253 at 5'-end on exon 7 of fibroblast growth factor receptor (FGFR) 2 have been identified in a large number of patients with Apert syndrome. In this study, nucleotide sequences on the intron 6 were determined by vector ligation-PCR and direct sequencing. Five DNA samples from sporadic Apert syndrome were examined by non-RI SSCP and direct sequencing using a primer pair of intron 6 and exon 7. All cases of the syndrome showed abnormal banding pattern in the SSCP and missense mutations from Ser to Trp at codon 252 of the FGFR2 gene. The non-RI SSCP and direct sequencing of the FGFR2 exon 7 from genomic DNAs may be a useful and rapid molecular means for clinical diagnosis of Apert syndrome.
In a male neonate dysmaturity, microcephalia, a high nasal bridge, a long philtrum, broad dental ridges, schisis of the palatum molle, retrognathia, a small penis with a chorda, a small scrotum, bilateral inguinal hernia and bilateral syndactyly of the second and third toes were observed. The presence of the Smith-Lemli-Opitz (SLO) syndrome was suspected. By gas chromatography a severely decreased plasma cholesterol level (0.27 mmol/l) was found and an increased plasma 7-dehydrocholesterol level (0.24 mmol/l). The SLO syndrome is caused by a block in the cholesterol biosynthesis due to the autosomal recessive deficiency of 7-dehydrocholesterol reductase. The patient's condition improved with use of a cholesterol-enriched diet.
We report two observations of antenatal diagnosis of Apert syndrome. This uncommon genetic disorder suggest an autosomal dominant inheritance, but almost all cases described are sporadic; the responsible gene is yet not located. Ultrasonographic detection is difficult, based on the following signs: brachycephalic skull (unusually detected), flat facial profile with a nasal bridge depression, tall appearance of the forehead (inconstant), total bilateral and symmetrical syndactylies of the hands and feet. At last we present our arguments for medical abortion, when this disorder is detected.
Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of brachydactyly, syndactyly, and polydacytly. Although considerable phenotypic overlap exists, these syndromes are considered by most investigators to be the result of different (although possibly allelic) genes. This report describes the clinical and roentgenologic manifestations in a family wit acrocephalosyndactyly (ACS) showing considerably variation in phenotype. Two different types of ACS were clinically identified in this single family. The proband presented with the classic stigmata of Pfeiffer syndrome while her cousin was considered to be a typical case of Apert syndrome. Further family study revealed that, in addition to these two individuals, seven other family members also have unusually shaped heads and have the facial appearance remiscent of Crouzon disease. Hand and foot anomalies were seen clinically in some but not all of these individuals. From the observations made in this family and from previous reports in the literature, we feel that there is a substantial reason to reevaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.
A case of malformation of the tear duct associated with clefts in the face is described. To our knowledge this combination has not been described before. The whole symptoms complex consisted of: bilateral cleft lip upper jaw and gum, choanalatresia, mucocele of the left nasal cavity from adhesions of the lower concha with the nasal septum, cystic dilatation of the tear sac at the connection to a bony naso-lacrimal duct. Right inguinal hernia, syndactyly of the first and second left toes, iris-chroid coloboma right with congenital cataract and unilateral right convergent squint. Because of the advanced dacryocystitis on the basis of the congenital dacryostenosis, and external dacryostorhinostomy (modified after Kaleff 1937) was performed after pre-treatment by instillation of antibiotic solutions in the tear ducts. At the same time the nasal cavity mucocele was opened by partial excision of the lower concha and opening the choanal atresia. After a post-operative course free of complications and with clear patency of the tear ducts the oral surgical operation was done--closure of the face clefts. The chromosome analysis was normal the only abnormal result here was an unexplained slow rate of multiplication of lymphocytes in four cultures inoculated at various points of time. Because we could not find any hereditary factors, this symptom complex is probably due to exogenous embryo damage during the early development phase.
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.
In 1964, Pfeiffer described a syndrome consisting of craniosynostosis, broad thumbs, broad great toes, and partial soft tissue syndactyly of the hands and feet. It belongs to acrocephalosyndactyly syndromes. We describe a male baby product of an eighth full-term uncomplicated uncontrolled pregnancy, mother and father normal and unrelated, 32 and 50 years old, respectively. He had all diagnostic and prognostic criteria of Subtype 2 Pfeiffer's Syndrome. The clinical, radiological, tomographic, and genetic aspects are discussed.
We evaluated four cases of persistent hyperplastic primary vitreous (PHPV) encountered at Nagoya City University Hospital in 1995. PHPV was seen unilaterally in three cases and bilaterally in one. The series comprised two males and two females, ranging in age from three to eight months, with an average of 4.8 months. Case 1 had a white strand running from the optic disc to the posterior surface of the lens in the left eye. Case 2 showed leukocoria in the right eye and central corneal opacity in the left. Magnetic resonance imaging (MRI) revealed total retinal detachment in both eyes. Case 3 exhibited retinal folds running from the optic disc to the posterior surface of the lens in the left eye. Case 4 showed elongation of the ciliary processes and leukocoria in the right eye. Ipsilateral total retinal detachment was seen in MRI. Three eyes of two cases were microphthalmic. Associated ocular anomalies included, posterior embryotoxon, sclerocornea, hypoplasia of the iris stroma and peripapillary staphyloma. There were accompanying systemic anomalies such as arachnoidal cyst, syndactyly, microcephalus, heart anomalies, pulmonary atresia and asplenia. Patients with PHPV should be carefully examined for the possible presence of other ocular and systemic anomalies caused by neural crest disorders.
We report a 25-year-old male with multiple pterygium syndrome (Escobar) complicated with a horseshoe kidney. He had clinical characteristics of Escobar syndrome, including palpebral ptosis, auricular anomalies, pterygia with contracture of the elbow and knee joints, syndactyly and polydactyly of the feet, and growth failure. Renal scintigraphy and abdominal MRI and CT demonstrated a horseshoe kidney, which was thought to be an incidental association. He had no auditory brainstem response, but he could respond to sounds of low-frequency and the voices of familiar persons. Neither brain MRI and CT nor SPECT demonstrated any abnormalities. Further neurophysiological and neuroradiological studies are necessary to elucidate neurological deficits in this syndrome.
Apert's syndrome is characterized by severe craniosynostosis, midface hypoplasia, symmetric syndactyly of the hands and sometimes feet. Cognitive functioning was evaluated in 11 children between 2.5 and 12.3 years. Four children had a normal IQ, four children had an intellectual ability in the borderline range and three children were mentally retarded. There was a consistent relative deficit in short-term memory and arithmetics. Some recommendations for psychological monitoring are discussed.
We observed omphalocele, absence of radii, hypoplasia of one humerus, a hemivertebra, and syndactyly in a stillborn male at 22 weeks of gestation. Craniofacial and genitourinary abnormalities were absent. DNA measurement by flow cytometry on a paraffin-embedded autopsy specimen showed 32% triploid cells. ORR (omphalocele-radial ray) complex appears to be a consistent combination, and diploid-triploid mixoploidy may be one of its causes.