Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization

Isidor, Bertrand; Baujat, Geneviève; Caignec, C. Le; Pichon, Olivier; Toutain, Annick; David, Albert

doi:10.1002/ajmg.a.32796

Cited by 15 publications

(9 citation statements)

References 20 publications

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“…The above discussion is germane to the question of an ABS type of HEDs because the sign, in some cases with other malformations, that has led most authors to suggest this diagnosis for patient(s) has been the presence of one or more skin pedicles, tags, or appendages similar to those observed by Streeter [1930]. Such cases include Corona‐Rivera et al [2003], Donnai and Winter, [1989] (Cases 2–4), Elliot et al [1995], Graham et al [1981] (Case 1), Hennekam [1992], Hivnor et al [2007], Isidor et al [2009] (Cases 1–6), Kabra et al [1994], Nakamura and Nanjyo [1992], O'Driscoll et al [2008], Purandare et al [2009] (Cases 1–4), Temtamy et al [2010] (Cases 1 & 2), Ten Donkelaar et al [2002]. In some instances the authors describe connections between the appendage(s) and other body parts or the amnion [Graham et al, 1981, Case 1; Donnai and Winter, 1989, Case 5; Nakamura and Nanjyo, 1992; Korniszewski et al, 1999; Corona‐Rivera et al, 2003; Hivnor et al, 2007; Purandare et al, 2009, Cases 2 & 3].…”

Section: Resultsmentioning

confidence: 93%

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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Section: Resultsmentioning

confidence: 93%

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

Hunter

2011

Am. J. Med. Genet.

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“…Amniotic band syndrome (ABS) presents with a broad spectrum of malformations characterized by asymmetry and polymorphism ( considerable discussion in the genetic literature about the potential overlap of ABS and a syndrome similar to the autosomal dominant mouse mutant 'Disorganization,' which has come to be known as the 'Disorganization-like syndrome' (Robin and Nadeau, 2001;Stanek et al, 2001;Isidor et al, 2009). That syndrome presents with a huge spectrum of structural birth defects including mirrorimage limb duplications and hamartomatous skin pedicles; limb abnormalities resembling the band-derived malformations of ABS, as well as neural tube defects, and tails, have also been described (Robin and Nadeau, 2001;Isidor et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

“…That syndrome presents with a huge spectrum of structural birth defects including mirrorimage limb duplications and hamartomatous skin pedicles; limb abnormalities resembling the band-derived malformations of ABS, as well as neural tube defects, and tails, have also been described (Robin and Nadeau, 2001;Isidor et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

Human tail

Gkourogianni¹,

Dermentzoglou²,

Skiathitou³

et al. 2016

Clinical Dysmorphology

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A boy born to healthy, young, nonconsanguineous, white parents was born at 40 weeks of gestation by vaginal delivery after an uneventful pregnancy to a gravida I mother. The Apgar score was 9 and 10 at 1 and 5 min, respectively. Anthropometric parameters including birth weight (3480 g), length (52 cm), and head circumference (35.5 cm) were all normal (25th-50th centiles). On physical examination, the baby presented a constriction ring of the left arm, hypoplastic left upper limb (Fig. 1a), wrist, and fingers of the left hand in contracture (Fig. 1b), a skin-covered mass extending asymmetrically into the buttock, and a 7 cm caudal appendage of a soft, boneless, well-circumscribed tissue located at the sacrococcygeal region (Fig. 1c). Ultrasonography and MRI indicated a closed spinal dysraphism with nonossified posterior elements of superior sacral vertebrae and a lipomyelocele. The spinal cord was tethered at the level of L4-L5 tracted by the large lipoma, whereas fatty tissue was projecting out of the spinal canal inside the caudal appendage (Fig. 2). Liver microcalcifications and a bilateral grade I hydronephrosis were also observed on abdominal ultrasound. On ophthalmic examination, the retinal epithelium was hypopigmented, whereas the optic nerves and the fovea were intact. Heart anatomy and function were normal.The affected left upper limb was treated by multiple Z-plasty combined with removal of fibrous groove and fasciotomy. Neurosurgical excision of the caudal appendage was also performed. On last examination, at the age Fig. 1Left arm (a) and hand deformities (b) and the caudal appendage (c).

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“…The recurrence in this family could be explained by a recessive pattern, but no increased prevalence of consanguinity is found in sirenomelia, and in the familial reports renal anomaly or imperforate anus were described in first‐degree relatives, suggesting a dominant pattern of inheritance with low penetrance [Rudd and Klimek, 1990; Selig et al, 1993], with one asymptomatic mother [Selig et al, 1993] and a father with few symptoms [Rudd and Klimek, 1990], with narrow inter‐pediculate distance. Our preferred hypothesis then is a dominant major gene with variable expression potentially due to genetic modifier genes, environmental effects or epigenetic repercussions (diet, toxins, hyperglycemia…), as in the mouse model “disorganization” (Ds), in which there is a spontaneous mutation in an inbred strain of mice, with random occurrence of multiple defects with extreme variability in a semi‐dominant manner [Hummel, 1958; Crosby et al, 1993; Isidor et al, 2009; Purandare et al, 2009; Hunter, 2011]. The Ds gene has been located on mouse chromosome 14, but remains elusive [Crosby et al, 1993; Hunter, 2011].…”

Section: Discussionmentioning

confidence: 99%

Sirenomelia and caudal malformations in two families

Gérard

Layet

Costa

et al. 2012

American J of Med Genetics Pt A

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We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans.

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Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization

Cited by 15 publications

References 20 publications

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

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

Human tail

Sirenomelia and caudal malformations in two families

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