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16 Possible Causes for Prenatal and Postnatal Short Stature, Systolic Murmur

  • Coarctation of the Aorta

    Increased nuchal translucency and aortic coarctation with a small ventricular septal defect were described prenatally, hypertrophic cardiomyopathy was detected postnatally[ncbi.nlm.nih.gov] Examination showed mild tachycardia, tachypnoea, weak femoral pulses, and a soft systolic murmur at the left sternal edge.[bmj.com] A grade 2 to 3/6 ejection systolic murmur is often present at the upper left sternal border, left axilla, and sometimes most prominently in the left interscapular area (see[merckmanuals.com]

  • Kenny-Caffey Syndrome Type 1

    […] and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to[malacards.org] Cardiovascular examination revealed a single first heart sound and a split-second heart sound, with a grade 3/6 ejection systolic murmur audible at the upper left sternal[medcraveonline.com] Orpha Number: 93324 Disease definition A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary[rarediseases.info.nih.gov]

  • Cutis Laxa

    Severe short stature, mental retardation and hypertrophic cardiomyopathy are other associated manifestations (16).[caribbean.scielo.org] Examination of the cardiovascular system was normal except for the presence of a systolic murmur.[medical-case-reports.imedpub.com] […] had markedly loose and wrinkled skin especially over the dorsum of the hands feet face and abdomen, pectus excavatum , large fontanelles, prominent ears, umbilical hernia, systolic[caribbean.scielo.org]

  • Turner Syndrome

    […] counseling and management after the diagnosis was made either prenatally or postnatally.[pediatrics.aappublications.org] Heart A systolic murmur may indicate a left-sided cardiac malformation such as bicuspid aortic valve or aortic coarctation, which may be best heard over the left scapula or[medicalhomeportal.org] Patients have been referred primarily for diagnostic evaluation (because of congenital lymphedema, dysmorphic features, short stature, or primary amenorrhea) and for genetic[pediatrics.aappublications.org]

  • Shaheen Syndrome

    Data in the literature show variable efficacy of GH in the treatment of short stature. We report four Emirati siblings with the condition.[edmcasereports.com] On presentation, the patient was hypotensive with a systolic blood pressure of 56 mmHg. Temperature was 36.5 C.[najms.org] The index case is a 10-year-old boy with characteristic features, including prenatal and postnatal growth failure, a triangular face, a long philtrum, full lips and prominent[edmcasereports.com]

  • Ring Chromosome 15

    She had prenatal and postnatal growth deficiency with a severe short stature, peculiar facies characterized by a triangular face, a pinched nose with anteverted nostrils and[insights.ovid.com] A systolic murmur of varying intensity was heard on auscul- tation. Routine laboratory tests were nor- mal.[docslide.com.br]

  • Char Syndrome

    […] and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.[rarediseases.org] The persistent shunt between the aorta and the pulmonary artery is associated with reduced arterial blood pressure and a characteristic, long, systolic heart murmur.[symptoma.com] […] and birth size / weight Small stature Microcephaly (prenatally and/or postnatally) Small hands and/or feet Short fifth finger Hirsutism The following health conditions are[en.wikipedia.org]

  • Spondylometaphyseal Dysplasia

    DIAGNOSIS The diagnosis of a skeletal dysplasia should be considered in any patient who has disproportionately short stature or abnormal development of one or more bones.[musculoskeletalkey.com] The chest was narrow; there was agrade II/VI soft ejection systolic murmur at the leftlower sternal border.[vdocuments.net] […] and postnatally and, ultimately, methods of treating or preventing these disorders.[musculoskeletalkey.com]

  • Wolf-Hirschhorn Syndrome

    Short stature and slow weight gain is common postnatally. Central nervous system Neurologic concerns are common and include the following.[emedicine.medscape.com] A Grade 4 systolic murmur and a 2 cm palpable liver were present.[mjdrdypu.org] […] onset followed by postnatal growth retardation is seen in 80% of patients with WHS.[emedicine.medscape.com]

  • Absence or Deformity of Leg- Cataract Syndrome

    - prenatal / intrauterine dwarfism Short stature - postnatal Short limbs Skin dimples Pointed chin Depressed nasal bridge Cleft nose / bifid tip Thin lips Long philtrum Low[mediscansystems.org] On auscultation a systolic murmur at left lower sternal border was audible.[jpma.org.pk] BARLOW SYNDROME: Floppy Mitral Valve Syndrome ; Massive Mitral Valve Prolapse ------ Late apical systolic murmur, systolic click, or both.[doctorslounge.com]

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