Poland anomaly with unusual associated anomalies: Case report of an apparent disorganization defect

Kabra, Madhulika; Suri, Mohnish; Jain, Usha; Verma, Ishwar C.

doi:10.1002/ajmg.1320520403

Cited by 23 publications

(13 citation statements)

References 15 publications

(6 reference statements)

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“…Molecular heterogeneity in PS could be stretched even further to accommodate mutations in the human equivalent of the mouse disorganization locus (Ds. MIM 223200), as has been recently suggested [13],…”

Section: Discussionmentioning

confidence: 54%

Poland Syndrome and Associated Dextrocardia in Kuwait

Sabry

Awadi

El-Alfi³

et al. 1994

Med Princ Pract

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During the 15-year period from January 1979 through December 1993, 13 unrelated sporadic cases of Poland syndrome were ascertained in Kuwait. Two of 5 cases (40%) of left-sided Poland syndrome were associated with dextrocardia. This study supports the previous findings of male sex predilection, right-sided predominance and the association of left-sided involvement with dextrocardia. An overview of the disease is presented with particular emphasis on the possible pathogenetic mechanism, worldwide familial cases and the broad spectrum of phenotypic heterogeneity.

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Section: Discussionmentioning

confidence: 54%

Poland Syndrome and Associated Dextrocardia in Kuwait

Sabry

Awadi

El-Alfi³

et al. 1994

Med Princ Pract

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“…My reason for including vascular compromise under Table I is in part a convenience of grouping but also reflects personal bias as to the pathogenesis of ABS. The patient with Poland anomaly and additional anomalies, some of which were suggested by the authors to possibly relate to amniotic bands [Kabra et al, 1994] and one with cutis aplasia [Hennekam, 1992] are included in that category as they too have been suggested to have a vascular pathogenesis [Bavinck and Weaver, 1986; Pereira da Silva et al, 2000].…”

Section: Resultsmentioning

confidence: 99%

Human equivalent of mouse disorganization: Has the case been made?

Hunter

2011

Am. J. Med. Genet.

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Temtamy and McKusick suggested mouse disorganization (Ds) as a model for human tibial agenesis, fibular duplication and mirror foot, but the concurrent papers by Winter and Donnai and Donnai and Winter in 1989 kindled interest and led to continued reports of patients hypothesized as human equivalent of Ds (HEDs). Subsequent reports have tended to follow one or other of the two categories outlined; (1) band/constriction with additional anomalies unexplained by bands (ABS); (2) patterns of malformation interpreted as resembling mouse Ds (non-ABS). A review of a series of cases led to a re-read of the original Ds mouse reports by Hummel in 1958 and 1959 and examination of current literature in an attempt to assess the strength of the argument that the patients might represent HEDs. Key to the approach was a paragraph in Hummel's introduction; "some of the developmental anomalies … from action of Ds are similar to those caused by other …genes…teratogens… others are unique…" The corollary is a patient is likelier to represent human DS if the anomaly(s) match these unique malformations/patterns. Presence of anomalies not specifically noted in Ds would weaken the argument for human equivalence. Reports of possible HEDs were ascertained using PubMed and literature cited by authors subsequent to the 1989 papers, up to and including January, 2010. This paper gives an overview of HEDs patients reported and concludes that the ABS type, even with non-band associated anomalies, is not likely to often represent HEDs. Many non-ABS HEDs patients had equally valid alternative hypothesis or diagnoses, malformations unreported or unusual for the Ds mouse, and/or paucity of the more unusual anomalies of the Ds mouse.

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“…Mother of case 1: polydactyly foot, absent metatarsal, bifid talus, L tib hypoplasia Kabra et al, 1994 M 2.5 years: absent L clavicular head and pectoralis major, several bifid digits, syndactyly, digit-like appendage from medial thigh Kapoor and Saha, 1987 F newborn: dup bladder/urethra/external genitalia, ventricular septal defect, malrotation of gut, ectopic anus, lumbosacral spine rachischisis, umbilical hernia Krishna et al, 1989 F newborn: dup hemipelvis/leg attached to R flank, sacral MMC Kotakemori and Ito, 1978 F newborn: dup L distal femur, absent L tibia and patella, L foot with two toes, R clubfoot, amputation of three fingers Lin, 1991 M newborn: abnormal facies, R radial ray aplasia, L tib/fib hypoplasia, multiple vertebral and rib anomalies, tracheoesophageal fistula, duplicated phallus and testis, dysplastic renal tissue with absent bladder and ureters, IA, hypoplastic lungs, SUA, and other anomalies Lowry and Yong, 1991 Case 1…”

Section: Patterns Of Variation In Ds Micementioning

confidence: 99%

“…Many examples of Ds in humans have been proposed (Table II). Review of these cases show that a diagnosis was usually prompted by an unusual limb malformation, such as mirror-image polydactyly Viljoen and Kidson, 1990], partial duplication [Robin et al, 1993, case 2] or complete limb duplication [Petzel and Erickson, 1991], by an unusual limb malformation in an individual with multiple anomalies [Zammit, 1898;Graham et al, 1981;Donnai and Winter, 1989;Winter and Donnai, 1989;Naguib et al, 1991;Boyd et al, 1992;Hennekam, 1992;de Michelena and Stachurska, 1993;Kabra et al, 1994;Teebi and Elliott, 1996], or by hamartomatous skin papillae. The fact that these hamartomas are a distinctive attribute of Ds-like cases in humans is evident by their presence in all candidate cases that do not involve a partial or complete limb duplication [Grandin, 1887;Stein and Bettmann, 1940;Norman, 1964;Kotakemori and Ito, 1978;Hanley and Stanitski, 1980;Robin et al, 1993, case 1].…”

Section: Possible Ds-like Cases In Humansmentioning

confidence: 99%

Disorganization in mice and humans and its relation to sporadic birth defects

et al. 1997

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Disorganization (Ds) is a mouse mutant best known for producing an exceptional variety of unusual developmental anomalies, such as mirror-limb duplications and hamartomatous skin papillae. So great is the range of malformations that no two affected mice are identical. Several patients with a similar variety of exceptional anomalies have been reported, raising the possibility of the existence of a human homologue of Ds. However, although these human cases represent the most striking findings seen in Ds mice, they do not represent the full range of defects. Most affected mice have only a single malformation, and most of these malformations are similar to both common (neural tube defects, orofacial clefting, gastroschisis, limb reductions) and rare (anophthalmia, duplicated rectum) human birth defects. It is therefore possible that the full spectrum of the human homologue of Ds includes not only patients with the unusual combination of anomalies but also common sporadic birth defects. We suggest that the low penetrance (approximately 0-30%) and highly variable expression of Ds make it a paradigm for understanding the genetic basis for many seemingly sporadic birth defects.

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Poland anomaly with unusual associated anomalies: Case report of an apparent disorganization defect

Cited by 23 publications

References 15 publications

Poland Syndrome and Associated Dextrocardia in Kuwait

Poland Syndrome and Associated Dextrocardia in Kuwait

Human equivalent of mouse disorganization: Has the case been made?

Disorganization in mice and humans and its relation to sporadic birth defects

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