A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

Kantaputra, Piranit Nik; Tanpaiboon, Pranoot

doi:10.1002/ajmg.a.30261

Cited by 7 publications

(4 citation statements)

References 16 publications

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“…The cases reported by Kantaputra and Tanpaiboon [2005] had severe femur hypoplasia but relatively well-formed hands and feet with normal nails, and were clearly not consistent with AARRS (and indeed the authors suggested a different disorder); their findings are remarkably similar to those reported as ''limb-pelvis hypoplasia/ aplasia'' by Genuardi et al [1997] (with absence of the femora but well-developed hands) and may cluster around the Schinzel phocomelia syndrome.…”

Section: Discussion Nosological Status and Diagnostic Features Of Thesupporting

confidence: 61%

Al‐Awadi–Raas‐Rothschild (limb/pelvis/uterus–hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation

Garavelli

Wischmeijer

Rosato

et al. 2010

American J of Med Genetics Pt A

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The Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) and the Fuhrmann syndrome (FS; OMIM 228930) are distinct limb malformation disorders comprising different degrees of limb aplasia or hypoplasia. In 2006, Woods et al. found different recessive WNT7A mutations in one family segregating the AARRS phenotype and in a second family with FS. To explain the common genetic basis for the two clinically distinct disorders, functional studies were done showing that partial loss of WNT7A function resulted in FS, while complete loss of WNT7A function resulted in the more severe phenotype of AARRS. In spite of the elucidation of the molecular basis of AARRS, there remains to this day considerable diagnostic confusion that has culminated in the lumping of Schinzel phocomelia syndrome with AARRS; however, this phocomelic limb defect is quite different in its clinical aspect and pathogenesis from the limb findings of AARRS. Here, we report on a child with the AARRS phenotype and homozygosity for a non-conservative E72K mutation in WNT7A, underline the homogeneity of the WNT7A-associated AARRS phenotype, and propose differential diagnostic criteria for the AARRS reflecting the roles of WNT7A in limb development. Ó

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Section: Discussion Nosological Status and Diagnostic Features Of Thesupporting

confidence: 61%

Al‐Awadi–Raas‐Rothschild (limb/pelvis/uterus–hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation

Garavelli

Wischmeijer

Rosato

et al. 2010

American J of Med Genetics Pt A

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“…Wnt10a is involved in the formation of the apical ectodermal ridge in limb buds (Narita et al 2005), but its particular role in the patterning of the skeleton is not clear. Mutations in Wnt7a have recently been shown as a primary cause of human syndromes (Woods et al 2006), collectively known as Al-Awadi/Raas-Rothschild syndrome or Schinzel phocomelia (Olney et al 2001;Kantaputra and Tanpaiboon 2005). In these congenital disorders, the pelvic girdle is either completely absent or severely malformed.…”

Section: Signals From the Paraxial Mesoderm Control Emx2 Expression Amentioning

confidence: 99%

Avian pelvis originates from lateral plate mesoderm and its development requires signals from both ectoderm and paraxial mesoderm

2007

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The pelvic girdle is composed of three skeletal elements: ilium, pubis, and ischium. In comparison with other parts of the postcranial skeleton, its development is not well known to date. To elucidate the embryonic origin of the avian pelvic girdle and the signaling centers that control its development, we have performed extirpation and quail-to-chick grafting experiments. The results reveal that the entire pelvic girdle originates from the somatopleure at somite levels 26 to 35. No somitic cell contribution to skeletal elements of the pelvis has been detected. Removal of the surface ectoderm covering the lateral plate mesoderm has revealed that ectodermal signals control the development of the pelvic girdle, especially the formation of the pubis and ischium. The impaired development of the ischium and pubis correlates with the downregulation of Pax1 and Alx4, two transcription factors that control the normal development of the ischium and pubis. Although of somatopleural origin, the development of the ilium depends on somitic signals. Insertion of a barrier between somites and somatopleure disrupts the expression of Emx2 and prevents normal development of the ilium but does not affect the expression of Pax1 or Alx4 and the development of the pubis and ischium. Thus, the development of the ilium, but not of the pubis and ischium, depends on somitic and ectodermal signals.

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“…The cases reported by Kantaputra and Tanpaiboon [2005] had severe femur hypoplasia but relatively well‐formed hands and feet with normal nails, and were clearly not consistent with AARRS (and indeed the authors suggested a different disorder); their findings are remarkably similar to those reported as “limb‐pelvis hypoplasia/aplasia” by Genuardi et al [1997] (with absence of the femora but well‐developed hands) and may cluster around the Schinzel phocomelia syndrome.…”

Section: Discussionmentioning

confidence: 53%

A thorough study on the relationships between dispersion quality and viscoelastic properties in carbon black filled SBR compounds

Leblanc¹,

Putman²,

Pianhanuruk³

2011

J of Applied Polymer Sci

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A series of carbon black filled SBR 1500 compounds (without curatives) were prepared in carefully controlled lab-mixing conditions so that filler content ranged from 0 to 50 phr, with the usual compounding ingredients. Carbon Black agglomeration and dispersion quality were assessed through an advanced microscopic technique with automated data treatment. Linear and nonlinear viscoelastic properties were evaluated using a closed cavity torsional rheometer, equipped for Fourier Transform rheometry experiments. In the linear viscoelastic regime, dynamic moduli mastercurves were derived from experiments in the 60À160 C temperature range. In the nonlinear viscoelastic regime, complex modulus and torque harmonics variation with strain amplitude were investigated at 100 C and frequency 0.5 and 1.0 Hz. Relationships between dispersion quality, carbon black loading and mixing parameters were investigated so that dispersion appears better when the filler loading is above a critical level that to some extent (but not exactly) corresponds to the theoretical percolation threshold (around 13%). Linear and nonlinear viscoelastic measurements demonstrate and quantify the role played by plasticizing compounding ingredients, that is, processing oil, stearic acid and other chemicals, with nearly no significant effect of mixing energy. At least 10À15 phr carbon black are necessary to recover the modulus loss associated with this plasticizing effect. Nonlinear results and particularly the torque harmonics reveal a number of details as to how the compounding ingredients do affect the viscoelastic behavior, with expectedly the carbon black playing the major role. By fitting results with mathematically simple models, all of the observed effects can be summarized in a rather limited number of parameters so that the effects of compounding ingredients can be studied in details.

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A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

Cited by 7 publications

References 16 publications

Al‐Awadi–Raas‐Rothschild (limb/pelvis/uterus–hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation

Al‐Awadi–Raas‐Rothschild (limb/pelvis/uterus–hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation

Avian pelvis originates from lateral plate mesoderm and its development requires signals from both ectoderm and paraxial mesoderm

A thorough study on the relationships between dispersion quality and viscoelastic properties in carbon black filled SBR compounds

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