Ultrasound diagnosis of the pena shokeir phenotype at 14 weeks of pregnancy

Ajayi, Richard A.; Keen, C. E.; Knott, P. D.

doi:10.1002/pd.1970150813

Cited by 36 publications

(29 citation statements)

References 11 publications

(7 reference statements)

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“…In case of the absence of specific movement patterns beyond the age of 10 wk, PMA pathologic development should be strongly suspected. This has been shown for spontaneous abortion (7), anencephaly (9), and fetal akinesia deformation sequence (10,11). In addition, we hypothesize that the absence of variable and complex movements beyond 10 wk indicates the presence of supraspinal dysfunction caused, for instance, by a genetic disorder or an early insult to the brain.…”

Section: Fetal Onset Of General Movementsmentioning

confidence: 99%

“…Some case reports suggested that neural dysfunction in the first trimester of pregnancy may induce changes in the differentiation and the qualitative and quantitative performance of specific movement patterns. For example, deviances in motor development during the first trimester have been reported for acquired disorders such as spontaneous abortion (7) or exposure to maternal type 1 diabetes (8) and in fetuses with congenital anomalies such as anencephaly (9) and fetal akinesia deformation sequence (10,11). However, how the various movement patterns develop from their first appearance onward has not been fully investigated.…”

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confidence: 99%

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Fetal Onset of General Movements

et al. 2008

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Perinatal qualitative assessment of general movements (GMs) is a tool to evaluate the integrity of the young nervous system. The aim of this investigation was to study the emergence of GMs. Fetal onset of GMs was studied sonographically in 18 fetuses during the first trimester of uncomplicated in vitro fertilization (IVF) pregnancies in weekly assessments. The earliest motility consisting of small and simple sideways bending (SB) of head and/or rump starts at 7 wk, lasting about 1 s. Between 7 and 8.5 wk, motility differentiates further into movements in which also one or two arms or legs become active; movements are still slow, small, and in one direction, but the duration increases to a few seconds. The transition into GMs at 9 -10 wk is characterized by variation in participating body parts and amplitude, speed, and direction during longer periods of time. Between 9 and 13 wk, simple and stereotyped SBs and GMs may coexist. At 9 wk, the incidence of SBs decreases (p ϭ 0.01) and that of GMs increases (p ϭ 0.006). The data suggest that initial simple fetal motility is generated by spinal and brainstem circuitries, and the emergence of complex and variable GMs denotes the onset of supraspinal modulation of this spinal and brainstem activity. (Pediatr Res 63: 191-195, 2008)

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Section: Fetal Onset Of General Movementsmentioning

confidence: 99%

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confidence: 99%

Fetal Onset of General Movements

et al. 2008

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“…Sepulveda et al [15] reported on the prenatal diagnosis of another case at 19 weeks, the pregnancy was terminated and the fetus had generalised skin oedema, bilateral pleural effusions and severe flexion contracture deformities. Ajayi et al [16] also reported an early prenatal diagnosis in an atrisk patient at 14 weeks of gestation. The diagnosis was based on an abnormal fetal movement profile in association with an abnormal position of the fetal limbs.…”

Section: Discussionmentioning

confidence: 97%

Prenatal Diagnosis of Arthrogryposis multiplex congenita with Increased Nuchal Translucency but without Any Underlying Fetal Neurogenic or Myogenic Pathology

et al. 2002

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Arthrogryposis multiplex congenita is a general term for congenital multiple joint contractures, the aetiology of which is variable. Prenatal diagnosis is usually based on the detection of diminished fetal movements and joint contractures on ultrasound. There are also reports of early diagnosis of arthrogryposis in the first and early second trimester by detection of subcutaneous oedema. We report another case of arthrogryposis multiplex congenita with increased nuchal translucency and scoliosis diagnosed by ultrasonography at 15 weeks of gestation. The pregnancy was terminated at the request of the parents. Post-mortem examination revealed that it was not associated with fetal myopathy or neuropathy. Multiple joint contractures with increased nuchal translucency without any underlying fetal neurogenic and myogenic pathology may be a distinct form of arthrogryposis multiplex congenita.

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“…Bu vakada da üst ve alt ekstremiteler simetrik ve bilateral olarak etkilenmişti. Ancak vakada pulmoner hipoplazi yoktu [7]. Pena-Shokeir fenotipik olarak trizomi 18'e benzediği için ayırıcı tanısının yapılması gerekir.…”

Section: Discussionunclassified

Pena-Shokeir fenotipi: Bir olgu sunumu

Göktolga¹,

Kurtulgan²,

Bolat³

et al. 2012

CMJ

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Pena-Shokeir phenotype is characterized by multiple ankylosis, facial anomalies and, pulmonary hypoplasia In this case, a male patient with microcephaly, asymmetric face, micrognathia, short neck, low set and posteriorly angulated ears, high-arched palate, high nasal bridge, anteverte nostril, ulnar deviation of the hands, camptodactly, flexion contracture at elbow, ankylozis at hip and knee, rocker bottom feet, club feet, sparse absent dermal ridges is described. . Prenatal başlayan büyüme geriliği vardır, baş çevresi sıklıkla küçüktür. Hipertelorizm, telekantus, epikantal fold, küçük ve posterior rotasyonlu kulaklar, deprese burun yapısı, küçük ağız, yüksek damak, mikrognati, multipl ankiloz (dirsek, diz, kalça, ayak bileği), ellerde unlar deviasyon, rocker-bottom feet, talipes eqiunovarus, kamptodaktili, dermal çizgilerin azlığı veya yokluğu (sıklıkla ellerde ve parmaklarda flexiyon çizgilerinin yokluğu), pulmoner hipoplazi, kriptorşidizm, kısa boyun, polihidramniyos, küçük veya anormal plasenta, kısa umblikal kord sık görülen anomalilerdendir [2]. Yarık damak, kardiak defektler nadir görülen anomalilerdir. Otozomal resesif (OR) geçiş bildirilmektedir. Yayınlanmış vakaların yarısında OR geçiş tarif edilmekle birlikte X'e bağlı geçiş de bildirilmiştir [3,4]. Son yıllarda yapılan çalışmalarda Pena-Shokeir fenotipinin tek bir etyolojiye bağlı olmadığı gösterilmiştir [5].

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Ultrasound diagnosis of the pena shokeir phenotype at 14 weeks of pregnancy

Cited by 36 publications

References 11 publications

Fetal Onset of General Movements

Fetal Onset of General Movements

Prenatal Diagnosis of Arthrogryposis multiplex congenita with Increased Nuchal Translucency but without Any Underlying Fetal Neurogenic or Myogenic Pathology

Pena-Shokeir fenotipi: Bir olgu sunumu

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