Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case

Vakili, Rahim; Mobini, Moein; Hatami, Farbod; Vakili, Saba; Valizadeh, Niloufar

doi:10.1016/j.radcr.2022.02.028

Cited by 1 publication

(3 citation statements)

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“…Some of these hormones are also required for childhood growth and since 1976 synthesis of recombinant human growth hormone has allowed a widespread use in several human conditions. Clearly, this strategy has been evaluated also for many genetic syndromes with a specific undergrowth, including some chromatinopathies with unclear results: two MGORS treated patients are reported, but the effectiveness of treatment was found in only one case (de Munnik et al, 2015; Vakili et al, 2022), while a modest success was shown in a group of Floating Harbor patients (Bo et al, 2021; Turkunova et al, 2022) and in a CDLS girl (de Graaf et al, 2017), but in this last case the treatment had to be interrupted for the adverse effects.…”

Section: Discussionmentioning

confidence: 99%

“…No specific early prenatal abnormalities have been reported. Vakili et al showed normal results of first‐trimester screening in their case of MGORS, with free Beta‐hCG and PAPP‐A within the normal ranges (Vakili et al, 2022). Conversely, Shalev et al observed increased thickness of nuchal translucency in one case of the three described (Shalev et al, 2015).…”

Section: Fetal Undergrowthmentioning

confidence: 99%

“…Vakili et al described a case with short femur length (FL) (10th percentile for gestational age) at 17 weeks of gestation. During the 29th week of gestation the FL, humerus and tibia were all below the fifth percentile for gestational age and a frontal bossing and widening of the nasal bridge were observed (Vakili et al, 2022).…”

Section: Fetal Undergrowthmentioning

confidence: 99%

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Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management

Avagliano,

Castiglioni,

Lettieri

et al. 2024

Birth Defects Research

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BackgroundChromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under‐ and over‐, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.MethodsAmong the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating‐Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics.Results/ConclusionTo date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.

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