Al‐Awadi/Raas‐Rothschild/Schinzel (AARRS) phocomelia syndrome: Case report and developmental field analysis

Subhani, Muhammad Imtiaz; Akangire, Gangaram; Kulkarni, Akshay; Wilson, Golder N.

doi:10.1002/ajmg.a.32890

Cited by 7 publications

(4 citation statements)

References 31 publications

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“…The case of Subhani et al [2009] is strictly confined to one segment (lower left) with three normal limbs, and thus does not fit diagnostic criteria for AARRS, unless one postulates a somatic mosaic (but no molecular studies were reported); a disruption might be an alternative explanation for the findings in that case.…”

Section: Discussion Nosological Status and Diagnostic Features Of Thementioning

confidence: 96%

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 Thementioning

confidence: 96%

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 sib fetuses described by Lonardo et al [2007] had marked disproportion between a large head and short trunk and spine with marked hygroma and neck hyperextension, and long bone hypoplasia or aplasia with clearly discernible toes; they most probably had a different disorder (and indeed no WNT7A mutations were identified in the family; see below). The case of Subhani et al [2009] is strictly confined to one segment (lower left) with three normal limbs, and thus does not fit diagnostic criteria for AARRS, unless one postulates a somatic mosaic (but no molecular studies were reported); a disruption might be an alternative explanation for the findings in that case.…”

Section: Discussionmentioning

confidence: 99%

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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“…14 Apart from this, substance abuse, such as cocaine or alcohol, gestational diabetes, and X-ray radiation exposure during pregnancy can lead to phocomelia. 15,16 Antenatal care should be attended as per WHO protocol so that early in utero identification and possible termination of pregnancies with lethal congenital anomalies can be done. Prenatal diagnosis has been reported as early as 11 weeks of gestation in a high-risk pregnancy with fusion abnormalities of both upper and lower extremities and a large cystic hygroma over the lower back.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Upper Limb Complete Phocomelia: A Case Report

Mesfin¹,

Seyoum²,

Tsegaye³

et al. 2023

IMCRJ

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Phocomelia is an uncommon congenital condition in which the hand or foot are normal or almost normal but the proximal section of the limb -the humerus or femur, radius or tibia, ulna or fibula -_is missing or noticeably hypoplastic. It refers to how the patient's limbs resemble marine creatures' flippers and its prevalence is 0.62 in 100,000 births. Case: We present a 15-min-old male neonate born to a para-four mother who did not remember her LNMP but claimed to be amenorrheic for the past nine months. The mode of delivery was by cesarean section to extract alive neonate weighing 2.01 kg with APGAR scores of 5 and 6 at first and fifth minutes, respectively. The neonate did not cry and was resuscitated for five minutes. He was then transferred to neonatal intensive care unit for further management and investigations. His vital signs were pulse rate 160 beats per minute, respiratory rate 70 breaths per minute, temperature 33.4 degrees centigrade and saturation was 60% off oxygen. On HEENT anterior fontanelle measures 2 cm by 2 cm and has micrognathia and short neck. On the respiratory system, there were intercostal and subcostal retractions, labored breathing and grunting. On the musculoskeletal system there is bilateral upper extremity shortening, the right lower limb was normal in position and structure, the left leg rotated inward (bent in medially) at the knee joint and foot was normal in structure. Conclusion: Phocomelia is a rare congenital anomaly in which the hand or foot are directly attached to the trunk. Ultrasonography should be done as early as possible to identify fetal anomalies in order to plan subsequent management.

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Al‐Awadi/Raas‐Rothschild/Schinzel (AARRS) phocomelia syndrome: Case report and developmental field analysis

Cited by 7 publications

References 31 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

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

Bilateral Upper Limb Complete Phocomelia: A Case Report

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