Prenatal and Postnatal Short Stature & Systolic Murmur: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Prenatal and Postnatal Short Stature, Systolic Murmur,

Negated

None

Unsure

None

Possible Causes

Hyponatremia

[…] teeth Clinical course, radiographs, laboratory findings Childhood (juvenile) AR or AD Short stature, skeletal deformity, bone pain/fractures Premature loss, deciduous teeth [ncbi.nlm.nih.gov]

[…] course Prenatal ultrasound examination, clinical course Infantile 2 Mostly AR Craniosynostosis, Hypomineralization, rachitic ribs, hypercalciuria Premature loss, deciduous [ncbi.nlm.nih.gov]

Diagnosis Perinatal (severe) AR Hypomineralization, osteochondral spurs 1 Radiographs, prenatal ultrasound examination Perinatal (benign) AR or AD Long-bone bowing, benign postnatal [ncbi.nlm.nih.gov]

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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]

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Williams-Beuren 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]

She had a systolic heart murmur (2-3/6) in her right upper sternal border with radiation to right cervical region. [hindawi.com]

In right upper sternal border, a systolic murmur (2-4/6) with radiation to right cervical region was heard. [ijp.tums.pub]

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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]

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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]

Although prenatal overgrowth and polyhydramnios occur, patients tend to have postnatal failure to thrive and a distinctive appearance. [caribbean.scielo.org]

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Coxa Valga

[…] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. [ncbi.nlm.nih.gov]

Other findings upon auscultation of the cardiovascular system may be RV third and fourth sounds or the systolic murmur of tricuspid regurgitation. [emedicine.medscape.com]

Systolic ejection murmur with a sharp ejection click over the pulmonary artery (advanced sign). [patient.info]

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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]

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Turner Syndrome

[…] counseling and management after the diagnosis was made either prenatally or postnatally. [doi.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 [doi.org]

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Gorlin-Chaudhry-Moss Syndrome

She exhibited prenatal and postnatal growth retardation together with short stature, and records showed that her height and weight were invariably under - 2.0 SD from birth [snucm.elsevierpure.com]

Cardiac auscultation reveals a continuous murmur, more accentuated during systole, that extends during the diastole and has a crescendo/decrescendo character. [symptoma.com]

She exhibited prenatal and postnatal growth retardation together with short stature, and records showed that her height and weight were invariably under 2.0 SD from birth [springermedizin.de]

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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]

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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]

Physical examination may be similar to older children with tachycardia, a continuous murmur and bounding pulses however it is not uncommon for the murmur to be only systolic [ojrd.biomedcentral.com]

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Hypophosphatasia

Heart auscultation showed a multifocal systolic murmur II/VI. The external genitalia showed bilateral hydrocele (Fig. 1). Figure 1: (A) Extreme short neck is showed. [journals.lww.com]

[…] course Prenatal ultrasound examination, clinical course Infantile 2 Mostly AR Craniosynostosis, Hypomineralization, rachitic ribs, hypercalciuria Premature loss, deciduous [ncbi.nlm.nih.gov]

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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]

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Spondylometaphyseal Dysplasia Type Kozlowski

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]

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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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Brachytelephalangic Chondrodysplasia Punctata

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]

Examination of Locomotor system showed rhizomelia wih flexion contractures are present Cardiovascular System showed systolic murmur. [jemds.com]

[…] and postnatally and, ultimately, methods of treating or preventing these disorders. [musculoskeletalkey.com]

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Hypertelorism and Tetralogy of Fallot

[ 1 – 3, 7 ], and short stature [ 1, 6, 7 ]. [ojrd.biomedcentral.com]

Cardiac exam reveals a harsh systolic ejection murmur. He starts crying in the middle of the exam and becomes cyanotic. [medbullets.com]

murmur (ASD), cryptochidism q22 q32 2301476, 11045577 ref. [chr7.org]

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McPherson-Robertson-Cammarano Syndrome

Short stature and slow weight gain is common postnatally. Central nervous system Neurologic concerns are common and include the following. [emedicine.medscape.com]

SYSTOLIC MURMURS : Cardiac disorders and their associated findings. AORTIC STENOSIS : Diamond-shaped systolic ejection murmur. [kumc.edu]

[…] onset followed by postnatal growth retardation is seen in 80% of patients with WHS. [emedicine.medscape.com]

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Mesomelic Dysplasia Type Kantaputra

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]

Several days after starting low dose ACTH treatment, a systolic murmur due to biventricular outflow tract obstruction intensified with ventricular arrhythmia. [jstage.jst.go.jp]

[…] and postnatally and, ultimately, methods of treating or preventing these disorders. [musculoskeletalkey.com]

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Cardio-Spondylo-Carpo-Facial Syndrome

Additionally, short stature is postnatal in geleophysic dysplasia but was of prenatal onset in all our Myhre patients. [jmg.bmj.com]

murmur heard over apex that prolongs with valsalva maneuver Mitral valve prolapse no need to give dental prophylaxis Antibiotic prophylaxis before dental and other procedures [quizlet.com]

Cardiac auscultation showed a mild proto-systolic ejection murmur at the pulmonary focus level. [karger.com]

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Autosomal Recessive Osteopetrosis Type 5

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]

A heart murmur is usually heard on physical examination of the patient. This murmur is best heard at the right second intercostal space during systole. [medical-dictionary.thefreedictionary.com]

[…] and postnatally and, ultimately, methods of treating or preventing these disorders. [musculoskeletalkey.com]

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