Developmental anomalies suggestive of the human homologue of the mouse mutant disorganization
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Abstract:
We describe a 21-week-old fetus with a pattern of multiple congenital anomalies suggestive of the human homologue of the mouse mutant disorganization (Ds). Manifestations included facial asymmetry, thick eye brows, micrognathia, apparently lowset ears, an enormous abdominal wall defect, severe kyphoscoliosis, camptodactyly of the fingers, complete absence of the left lower limb, and absence of the lower part of the sacrum and coccyx, as well as left side of the pelvis. There was a disorganized appearance of the right foot with supernumerary digits and appendages and talipes equinovarus. No obvious amniotic bands or oligohydramnios were noted. Similar cases in the literature are reviewed and the clinical significance to genetic counselling is emphasized.Keywords:
Kyphoscoliosis
Camptodactyly
Polydactyly
Syndactyly
Agenesis
Syndactyly
Polydactyly
Dysostosis
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To evaluate the outcome of fetuses with prenatal diagnosis of finger and toe anomalies. A retrospective observational study of all cases of polydactyly, oligodactyly and syndactyly of hands and feet diagnosed at our center in the period 2000–2005. Twenty-five cases of finger and toe anomalies were seen, including 14 cases of polydactyly, 3 cases of oligodactyly and 8 cases of syndactyly. Prenatal diagnosis was confirmed in all cases by postnatal follow-up. Among 14 cases of polydactyly diagnosed in utero, 8 were isolated, 5 of which with a family history of polydactyly (36%), whereas other anomalies were present in 6 fetuses (43%), mostly kidney disease (33%). Trisomy 13 was diagnosed in 2 fetuses with polydactyly associated with other anomalies (33%), whereas chromosomal abnormalities were not found in any case of isolated polydactyly. Among 3 cases of oligodactyly suspected prenatally, 2 were isolated and 1 was associated with transverse limb defect. In all cases the karyotype was normal. Syndactyly was isolated in 6 out of 8 cases (75%) identified. Among the remaining two fetuses one presented multiple anomalies and the other had a wide gap in the metopic suture. A chromosomal defect was found in one case and a Timothy syndrome in another. Six of out of 8 patients with a prenatal diagnosis of syndactyly terminated their pregnancies (75%). When isolated the prognosis of polydactyly is generally good, however other malformations are present in about 40% of cases and chromosomal defects in one third of these. Oligodactyly is usually not associated with chromosomal abnormalities but other limb defects can be present. Albeit limited, our results confirm an association of syndactyly with genetic syndromes and chromosomal abnormalities in 50% of cases diagnosed in utero.
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Summary: Syndactyly and polydactyly—respectively characterized by fused and supernumerary digits—are among the most common congenital limb malformations, with syndactyly presenting at an estimated incidence of 1 in 2,000–3,000 live births and polydactyly at a frequency of 1 in approximately 700–1,000 live births. Despite their relatively regular manifestation in the clinic, the etiologies of syndactyly and polydactyly remain poorly understood because of their phenotypic and genetic diversity. Further, even though concrete knowledge of genotypic links has been established for some variants of syndactyly and polydactyly, there appears to be no single comprehensive published summary of all syndromic and nonsyndromic syndactyly and polydactyly presentations, and there is decidedly no resource that maps all syndromic and nonsyndromic syndactylies and polydactylies to their genetic bases. This gap in the literature problematizes comprehensive carrier screening and prenatal diagnosis and complicates novel diagnostic attempts. This review thus attempts to collect all that is known about the genetic bases of syndromic and nonsyndromic syndactylies and polydactylies, as well as to highlight the dactyly manifestations for which no genetic bases are as yet known. Then, having established a summation of existing and missing knowledge, this work briefly outlines the diagnostic techniques that a genetics-reinforced understanding of syndactyly and polydactyly could inform.
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Dysostosis
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Objective To develop a convenient rat model of polydactyly,syndaetyly and cleft hand (foot)using a chemical teratogens. Methods Busulfan,an alkylating agent,was administered to the pregnant wistar albino rat with a dose of 25 mg/kg body weight on gestational day 12.Treated embryos were removed and stained with alizarin red and aleian blue to observe the incidence and types of malformation.Results The types of limb malformation were mairdy polydactyly,syndactyly and cleft hand(foot).Polydactyly has the highest incidence of occurrence. Conclusion An animal model of limb malformation for studying the molecu]ar mechanism of chemical teratogens has been successfully established.
Key words:
Rats,wistar; Busulfan; Polysyndactyly; Syndactyly; Cleft hand(foot)
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Foot (prosody)
Ectrodactyly
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Objective
Understand the occurrence of polydactyly and syndactyly in hospitalized patients.
Methods
The clinical information of hospitalized patients with polydactyly and syndactyly were collected. The gender proportion, birth time, the type and location of distortion in hospitalized patients with polydactyly and syndactyly were descriptively analyzed. Statistical analysis was performed on the location of the malformation in male and female patients.
Results
Among the 183 patients with polydactyly and syndactyly, the ratio of male to female was about 3∶2. The number of patients born in August and September was significantly lower than that in other months. The malformation of 170 cases occurred only in the hands or feet, accounting for 93%, of which 155 cases occurred only in the hands, accounting for 85%, 15 cases occurred only in the feet, accounting for 8%; 13 cases occurred simultaneously in the hands and feet, accounting for 7%. 152 cases occurred on one side, accounting for 83%, of which 52 cases occurred on the left side, accounting for 28%, 100 cases occurred on the right side, accounting for 55%; 31 cases occurred bilaterally, accounting for 17%. Of the 135 patients with multiple fingers, 112 cases had multiple fingers on the radial side of the thumb, accounting for 83%; 23 cases had multiple fingers on the other sites, accounting for 17%. Among the 183 hospitalized patients with polydactyly and syndactyly, there were significant differences in the incidence of hand and foot between male and female patients, and the difference was statistically significant (P=0.011).
Conclusion
Among these hospitalized patients, the type of malformation is mainly single polydactyly and single syndactyly; the most common sites are in the hand or unilateral, and the onset of the thumb is the most common in multiple fingers. According to the chi-square test, male and female patients have significant differences in the incidence of hand and foot.
Key words:
Polydactyly; Syndactyly; Gender proportion; Location of malformation
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Abstract We report on a 25‐year follow‐up of a Pakistani kindred with a unique combination of camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. The less common anomalies in the affected subjects include syndactyly involving all digits, and bifid toes. This condition is grossly bilateral, symmetrical, and affects upper and lower limbs of the 26 affected subjects in the kindred. The comparable number of affected male and female subjects ( χ 2 = 0.154, P < 0.1), disease allele transmission by mother and father, and the malformation segregation in four consecutive generations are strongly suggestive of autosomal dominant inheritance. Differential diagnosis considered syndactyly types II, III, and V. Only type II syndactyly manifests noticeable phenotypic overlap with the clinical presentation in this family; however, the typical type II syndactyly changes are absent. To the best of our knowledge, this autosomal dominant limb phenotype has not been reported previously. © 2010 Wiley‐Liss, Inc.
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Camptodactyly
Clinodactyly
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