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SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

ABSTRACT: Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. The molecular basis of SHOX haploinsufficiency was distinct in each case. In four cases, SHOX haploinsufficiency was inherited from a previously undiagnosed parent. In our de novo case, SHOX haploinsufficiency reflected the formation of a derivative sex chromosome during paternal meiosis. Final adult height in the SHOX-deficient parents ranged from -1.9 to -1.2 SDS. All affected parents had disproportionately short limbs and two affected mothers had bilateral Madelung deformity. To our knowledge, SHOX haploinsufficiency has not previously been reported to present in utero. Our experience illustrates that SHOX deficiency should form part of the differential diagnosis of foetal short long bones and suggests a low threshold for genetic testing. This should be particularly targeted at, but not limited to, families with a history of features suggestive of SHOX deficiency. Data on the postnatal growth of our index cases is presented which demonstrates that antenatal presentation of SHOX haploinsufficiency is not indicative of severe postnatal growth restriction. Early identification of SHOX deficiency will enable accurate genetic counselling reflecting a good postnatal outcome and facilitate optimal initiation of growth hormone therapy.

SUBMITTER: Ramachandrappa S

PROVIDER: S-EPMC5839025 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

Ramachandrappa Shwetha S Kulkarni Abhijit A Gandhi Hina H Ellis Cheryl C Hutt Renata R Roberts Lesley L Hamid Rosol R Papageorghiou Aris A Mansour Sahar S

European journal of human genetics : EJHG 20180112 3

Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. The molecular basis of SHO ...[more]

PMID: 29330548

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Project description:IntroductionPain during pregnancy affects women's well-being, causes worry and is a risk factor for the child and the mother during labor. The aim was to investigate the relative importance of an extensive set of pregnancy-related physiological symptoms and psychosocial factors assessed in the first trimester compared with the occurrence of pregnancy-related pain symptoms later in the pregnancy.Material and methodsIncluded were all women who booked an appointment for a first prenatal visit in one of 125 randomly selected general practitioner practices in Eastern Denmark from April 2015 to August 2016. These women answered an electronic questionnaire containing questions on the occurrence of five pregnancy-related pain symptoms: back pain, leg cramps, pelvic cavity pain, pelvic girdle pain and uterine contractions. The questionnaire also included sociodemographic questions and questions on chronic diseases, physical symptoms, mental health symptoms, lifestyle and reproductive background. The questionnaire was repeated in each trimester. The relative importance of this set of factors from the first trimester on the five pregnancy-related pain symptoms compared with the second and third trimesters was assessed in a dominance analysis.ResultsA total of 1491 women were included. The most important factor for pregnancy-related pain in the second trimester and third trimester is the presence of the corresponding pain in the first trimester. Parity was associated with pelvic cavity pain and uterine contractions in the following pregnancies. For back pain and pelvic cavity pain, the odds increased as the women's estimated low self-assessed fitness decreased and had low WHO-5 wellbeing scores.ConclusionsWhen including physical risk factors, sociodemographic factors, psychological factors and clinical risk factors, women's experiences of pregnancy-related pain in the first trimester are the most important predictors for pain later in pregnancy. Beyond the expected positive effects of pregnancy-related pain, notably self-assessed fitness, age and parity were predictive for pain later in pregnancy.

Dataset Information

SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

Publications

SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

Similar Datasets

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