Limb deficiencies in infants with trisomy 13

Ml, Martínez-Frías; Villa, A.; De, Pradip; A, Ayala Garcés; Mj, Calvo; Bermejo, Eva; Rodríguez, Laura

doi:10.1002/1096-8628(20000814)93:4<339::aid-ajmg15>3.0.co;2-r

Cited by 10 publications

(4 citation statements)

References 17 publications

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“…Other common limb findings include camptodactyly, single palmar crease, hypoplasia of the nails of hands and/or feet, and prominent heel. Cleft hands and/or feet, or ectrodactyly, has been rarely reported among individuals with PS, especially through case reports [Martínez‐Frías et al, ]. It is noteworthy in our study that one patient (3%) had a cleft in one hand between the fourth and fifth fingers (Fig.…”

Section: Discussionmentioning

confidence: 57%

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

Petry¹,

Polli²,

Mattos

et al. 2013

American J of Med Genetics Pt A

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Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P<0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging.

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Section: Discussionmentioning

confidence: 57%

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

Petry¹,

Polli²,

Mattos

et al. 2013

American J of Med Genetics Pt A

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“…The patients identified from the literature in which SHFM was present in association with CHD are summarized in Tables 2 and 3. Forty‐two syndromic cases (including those with chromosomal anomalies, single gene defects, and associations) were included (Asamoah et al, 1998; Bamshad et al, 1998; Becerra et al, 1992; Butler et al, 1965; Castle and Bernstein, 1988; Cerrahoglu et al, 2004; Chaoui et al, 1997; Czeizel et al, 1994; de Jong et al, 1998; Elliott et al, 2006; Endoh et al, 2003; Filippi, 1989; Fried et al, 1977; Giannotti et al, 1995; Guion‐Almeida et al, 2000; Han et al, 2000; Hancock et al, 2002; Herrmann et al, 1980; Jorgenson, 1971; Lewis and Pashayan, 1981; Martinez‐Frias et al, 2000; Mingarelli et al, 2005; Moerman et al, 1982; Pandya et al, 1995; Patel et al, 1997; Petek et al, 2000; Ram et al, 1994; Rao and Sissman, 1971; Richieri‐Costa and Orquizas, 1987; Rogers, 1994; Shenoy and Kamath, 2004; Singer et al, 1989; Tsukahara et al, 1997; Urioste et al, 1994; Van Allen and Myhre, 1991; Worthington and Goldblatt, 1997; Zapata et al, 1995; Zhao et al, 2003) (Table 2). There were 15cases of “unrecognized syndromes” (a.k.a.…”

Section: Resultsmentioning

confidence: 99%

The association of split hand foot malformation (SHFM) and congenital heart defects

Elliott

Evans

2008

Birth Defects Research

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“…18 Limb deficiencies such as ectrodactyly and oligodactyly have also been reported in trisomy 13. 19 Aplasia of the radius, usually associated with absence or hypoplasia of the first metacarpal and thumb, is the most prevalent reduction malformation in trisomy 18 infants. 20 Brachydactyly, fifth finger clinodactyly and hypoplasia of the middle phalanx, syndactyly, and a wide gap with a deep crease between the first and second toes are frequent but non-specific findings in patients with Down syndrome.…”

Section: Discussionmentioning

confidence: 99%

A morpho-etiological description of congenital limb anomalies

Tayel

Fawzia

Al-Naqeeb

et al. 2005

Annals of Saudi Medicine

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BACKGROUNDLimb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis.PATIENTS AND METHODSIn a retrospective study, 70 newborns with anomalies of the upper and/or lower limbs were ascertained through clinical examination, chromosomal analysis, skeletal surveys and other relevant investigations.RESULTSFetal causes of limb anomalies represented 55.8% of the cases in the form of 9 cases (12.9%) with chromosomal aberrations (trisomy 13, 18 and 21, duplication 13q and deletion 22q) and 30 cases (42.9%) with single gene disorders. An environmental etiology for limb anomalies was diagnosed in 11 cases (15.7%) as amniotic band disruption, monozygotic twin with abnormal circulation, vascular disruption (Poland sequence, sirenomelia and general vascular disruption) and an infant with a diabetic mother. Twenty cases (28.5%) had limb anomalies as part of sporadic syndromes of unknown etiology.CONCLUSIONSThe morpho-etiological work-up of limb anomalies adopted in the present study is valuable for detecting the cause of the anomaly and is crucial for its prevention. Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis.

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Limb deficiencies in infants with trisomy 13

Cited by 10 publications

References 17 publications

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

The association of split hand foot malformation (SHFM) and congenital heart defects

A morpho-etiological description of congenital limb anomalies

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