Pulmonary Hypertension & Severely Disproportionate Short Stature: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Pulmonary Hypertension, Severely Disproportionate Short Stature,

Negated

None

Unsure

None

Possible Causes

Kyphoscoliosis

In July 2016, right heart catheterization confirms a diagnosis of pulmonary hypertension (PH). [medpagetoday.com]

short-limb short stature Hydrops fetalis Short palm Enlargement of the proximal femoral epiphysis Decreased cervical spine mobility Osteopenia Sloping forehead Skeletal dysplasia [mendelian.co]

Prolonged exposure to the low partial pressure of oxygen in the cabin of the aircraft led to pulmonary hypertension and right heart failure. [ncbi.nlm.nih.gov]

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Coxa Valga

and must be distinguished from pulmonary venous hypertension (part 2), and also from primary pulmonary hypertension (part 1) and from thromboembolic pulmonary hypertension [ncbi.nlm.nih.gov]

short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity [ncbi.nlm.nih.gov]

Finally, as pulmonary arterial hypertension is “the sine qua non” of cor pulmonale,2 we believe that the best definition of cor pulmonale is : pulmonary arterial hypertension [heart.bmj.com]

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Prata-Libéral-Gonçalves Syndrome

Chronic Obstructive Pulmonary edema of mountaineers Pulmonary fibrosis /granuloma Pulmonary Hypertension, Secondary Pulmonary hypertension Pulmonary hypoplasia familial [bioreference.net]

[…] metacarpal Waddling gait Short neck Short femoral neck Joint laxity Abnormal joint morphology Disproportionate short-trunk short stature Enlarged joints Autosomal recessive [mendelian.co]

Disease, Chronic Obstructive Pulmonary Hypertension, Secondary Pulmonary alveolar proteinosis Pulmonary alveolar proteinosis, congenital Pulmonary arterio-veinous fistula [mindmappedia.com]

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Cystitis

Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016). [ncbi.nlm.nih.gov]

There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. [ncbi.nlm.nih.gov]

Autosomal recessive spondyloepimetaphyseal dysplasia MedGen UID: 98476 •Concept ID: C0432213 • Disease or Syndrome Syndrome with characteristics of disproportionate short-trunked [ncbi.nlm.nih.gov]

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Growth Failure

Progress was complicated by on-going feeding difficulties and mild hypoxaemia during sleep with associated pulmonary hypertension requiring low-flow O 2 therapy. [bone-abstracts.org]

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families [advbiores.net]

The short stature may be either proportionate or disproportionate, severe or mild, and have pre-natal and/or post-natal origin ( 7, 8 ). [frontiersin.org]

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Spondyloepiphyseal Dysplasia Congenita

Persistent pulmonary hypertension of the newborn (PPHN) remains an important cause of mortality and morbidity in the term neonate. [ncbi.nlm.nih.gov]

Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately [diseaseinfosearch.org]

Severe pulmonary hypertension, already present at birth, led to right heart failure and death at the age of 1 year. [ncbi.nlm.nih.gov]

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Thoracomelic Dysplasia

[…] embolism 肺塞栓症 pulmonary fibrosis 肺線維症 pulmonary gangrene 肺壊疽 pulmonary hemorrhage 肺出血 pulmonary hemosiderosis 肺血鉄症 pulmonary hypertension 肺高血圧症/肺高血圧 PH pulmonary hypoplasia [jpeds.or.jp]

short-limb short stature Hypoplastic ilia Severe short stature Hyperlordosis Limb undergrowth Irregular capital femoral epiphysis Abnormal facial shape High myopia Severe [mendelian.co]

265380 : PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN 265400 : PULMONARY HYPERTENSION, PRIMARY 265430 : PULMONARY HYPOPLASIA 265450 : PULMONARY VENOOCCLUSIVE [www5.geometry.net]

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Cystocele

Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016). [ncbi.nlm.nih.gov]

There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. [ncbi.nlm.nih.gov]

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Geleophysic Dysplasia

There was persistent hypo-uricacidaemia, severe pulmonary hypertension and tricuspid insufficiency. [ncbi.nlm.nih.gov]

Geleophysic dysplasia is a rare, autosomal recessive disorder which causes disproportionate short stature associated with severe physical handicaps, but is compatible with [ncbi.nlm.nih.gov]

On examination, he had severe disproportionate short stature with a height of 115 cm (-3.9 SDS) [ 10, 11 ], a markedly elevated sitting height/total height ratio (sitting [karger.com]

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Schimke Immunoosseous Dysplasia

Additional clinical management guidelines are recommended as this study has shown that patients with SIOD may be at risk of pulmonary hypertension, combined immunodeficiency [experts.umn.edu]

Disproportionate short-trunk short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism Last updated: 9/18/ [rarediseases.info.nih.gov]

Pulmonary system Several patients have died from pulmonary complications including pulmonary emboli, pulmonary hypertension, and lung disease. [rarediseases.org]

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Coxa Vara

Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016). [ncbi.nlm.nih.gov]

There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. [ncbi.nlm.nih.gov]

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Saldino-Noonan Syndrome

[…] can cause persistent pulmonary hypertension (PPH) [ 3 ]. [hindawi.com]

[…] progresses to true and disproportionate microcephaly ; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs [lookfordiagnosis.com]

pulmonary agenesis pulmonary artery pulmonary hypertension pulmonary hypoplasia pulmonary veins pulmonary venous renal agenesis reparative phases reported Rev Respir septal [books.google.com]

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Skeletal Dysplasia

Severe respiratory compromise secondary to lung hypoplasia and pulmonary hypertension, and intestinal obstruction led to their demise. [ncbi.nlm.nih.gov]

Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature. [doi.org]

Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. [ncbi.nlm.nih.gov]

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Spondyloepiphyseal Dysplasia Type Cantú

hypertension, primary, Pulmonary venoocclusive disease CAV1 Lipodystrophy, congenital generalized, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [genda.com.ar]

Physical exaniination at 13 years (Fig. 1) showed severe, disproportionate shortness of stature caused by rhizomesomelic shortness with a semiflexed posture (clinical and [docslide.com.br]

Hypertension Pycnodysostosis Pyridoxine Dependency Pyruvate Dehydrogenase Complex Deficiency (PDCD) Pyruvate Kinase Deficiency Q R Ramsay Hunt Syndrome Raynaud Disease Reflex [geneticalliance.org.au]

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Hypoplastic Kidney

[…] hypoplasia) high blood pressure (hypertension) liver problems chronic kidney disease (CKD) and kidney failure Treatments for these common problems are described below. [nhs.uk]

Anthropometry revealed severe, disproportionate short stature (height 95 cm, height standard deviation (SD) score - 4.5, upper segment 52 cm and lower segment 43 cm. [thetrp.net]

In patients aged 5 to 10 years, signs of portal hypertension, such as esophageal and gastric varices and hypersplenism, occur. [merckmanuals.com]

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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

In situ central pulmonary artery thrombosis in primary pulmonary hypertension. Acta Radiol 2005;46:696-700. Agarwal PP, Dennie CJ, Matzinger FR, Peterson RA, Seely JM. [scirp.org]

short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay [orpha.net]

[…] in pregnancy ] Primary pulmonary hypertension (PPH) Pulmonary arterial hypertension (PAH) Chronic thromboembolic pulmonary hypertension Acute heart failure High blood pressure [csirnotes.com]

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Dyschondrosteosis-Nephritis Syndrome

Alveolar Proteinosis Pulmonary Arterial Hypertension Pulmonary Hypertension, Secondary Pure Red Cell Aplasia, Acquired Pyknodysostosis Pyoderma Gangrenosum Pyridoxine-Dependent [arrayit.com]

It often goes unrecognized in childhood and is diagnosed in adult life when disproportionate short stature becomes obvious [ 87 ]. [intechopen.com]

Arterial Hypertension (PAH) Pyridoxine-dependent Epilepsy (PDE) RASopathies (Neuro-Cardio-Facial-Cutaneous Syndromes) - Overview Rett Syndrome (RTT) Rett Syndrome, atypical [medical-genetics.de]

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Achondroplasia

Surgical craniocervical decompression led to an improvement in sleep disturbances and pulmonary hypertension. [ncbi.nlm.nih.gov]

Achondroplasia is the most common condition associated with severe disproportionate short stature. 4 The diagnosis can usually be made on the basis of clinical characteristics [pediatrics.aappublications.org]

Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature. [doi.org]

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Platyspondyly

Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases [mendelian.co]

[…] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than [mendelian.co]

Narrow thorax with severe pulmonary hypoplasia and pulmonary hypertension is a major cause of death in these neonates. [jemds.com]

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Progeria

We report the first autopsied case of an incomplete type of Hunchinson-Gilford progeria associated with fatal pulmonary hypertension. [ncbi.nlm.nih.gov]

[…] growth retardation, resulting in short stature, low weight and delayed anterior fontanel closure. [ncbi.nlm.nih.gov]

hypertension. 39 It thus becomes plausible that other patients suffering from MAD might develop pulmonary hypertension at a later age, and therefore, should be carefully [nature.com]

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Schwartz-Lelek Syndrome

chronic obstructive Pulmonary edema of mountaineers Pulmonary fibrosis /granuloma Pulmonary hypertension, secondary Pulmonary hypertension Pulmonary hypoplasia familial [sosu.us]

[…] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear [flinders.edu.au]

hypertension Seemanova Lesny syndrome Seemanova syndrome type 2 Seghers syndrome Segmental neurofibromatosis Segmental vertebral anomalies Seizures benign familial neonatal [wikidoc.org]

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Frontometaphyseal Dysplasia

These patients have facial asymmetry, mandibular hypoplasia, bradycardia, restrictive lung disease, primary pulmonary hypertension, skeletal abnormalities and difficult endotracheal [ncbi.nlm.nih.gov]

Other non-lethal skeletal dysplasias result in disproportionate short stature. Achondroplasia is the most common cause of disproportionate short stature worldwide. [blueprintgenetics.com]

If scoliosis is present, the patient should be assessed for the degree of restrictive lung disease (spirometry) and the presence of pulmonary hypertension (chest radiographs [accessanesthesiology.mhmedical.com]

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Mulibrey Nanism Syndrome

Cardiac evaluation showed constrictive pericarditis, moderate pulmonary hypertension, and mild pericardial effusion. [jthc.tums.ac.ir]

short and disproportionate stature. [icd.codes]

178600; BMPR2 Pulmonary hypertension, primary; 178600; MADH9 Pulmonary hypertension, primary, fenfluramine-associated; 178600; BMPR2 Pulmonary veno occlusive disease; 265450 [howlingpixel.com]

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Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated [mendelian.co]

Arterial Hypertension, Primary, Dexfenfluramine-associated Pulmonary Hypertension, Primary Pulmonary Surfactant Metabolism Dysfunction, Type 2, Respiratory Insufficiency, [sequencing.com]

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Postaxial Oligodactyly, Tetramelic

PHN OMIM:178600 Pulmonary Hypertension, Primary, 1; PPH1 OMIM:615342 Pulmonary Hypertension, Primary, 2; PPH2 OMIM:615343 Pulmonary Hypertension, Primary, 3; PPH3 OMIM:615344 [informatics.jax.org]

[…] intrauterine growth retardation Short hallux Radial bowing Thin ribs Aplasia/hypoplasia of the extremities Slender long bone Hypokinesia Hyperostosis Disproportionate short-limb [mendelian.co]

Pulmonary Hypertension, Primary, 4; PPH4 OMIM:265400 Pulmonary Hypertension, Primary, Autosomal Recessive OMIM:178610 Pulmonary Nodular Lymphoid Hyperplasia, Familial OMIM [informatics.jax.org]

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Spondyloperipheral Dysplasia

[…] by severe disproportionate short stature of prenatal onset. [emedicine.medscape.com]

[…] fibrosis, idiopathic, susceptibility to (IPF) TERC del,TERT del Pulmonary fibrosis, telomere-related, 1 TERT Pulmonary hypertension, primary, 3 (PPH3) CAV1 Pulmonic stenosis [uniklinik-freiburg.de]

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Osteogenesis Imperfecta

A new recessive syndrome with VATER-like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency. [scielo.br]

Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature. [doi.org]

Death usually resulted from the complications of skeletal chest wall deformity including kyphoscoliosis, pulmonary hypertension, and cardio‐respiratory failure. [onlinelibrary.wiley.com]

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Non-Syndromic Aplasia Cutis Congenita

hypertension. [mjdrdypu.org]

[…] femur Hypoplastic ilia Long foot Flat acetabular roof Severe intrauterine growth retardation Delayed epiphyseal ossification Disproportionate short stature Stillbirth Short [mendelian.co]

hypertension in order to complement the decision-making process for surgical correction. [worldwidescience.org]

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Hypochondroplasia

Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. [ncbi.nlm.nih.gov]

Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short [ncbi.nlm.nih.gov]

Format Definition Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype. [uniprot.org]

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Neuronal Ceroid Lipofuscinosis

[…] arterial hypertension Idiopathic pulmonary fibrosis Idiopathic torsion dystonia Idiopathic torsion dystonia of mixed type Idiopathic ventricular fibrillation, Brugada type [csbg.cnb.csic.es]

short stature in humans; valoctocogene roxaparvovec, an AAV5 vector and factor VIII gene therapy drug development candidate for the treatment of severe hemophilia A; BMN [pressoracle.com]

[…] arterial hypertension Familial pyrimidinemia Familial rectal pain Familial recurrent arthritis Familial renal amyloidosis due to Apolipoprotein AI variant Familial renal [csbg.cnb.csic.es]

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