Luke's Presentation Title Approach to the Dysmorphic Child Conference or Meeting Name SLU Pediatrics - Jr Lecture Series Presentation Title NF Across the Lifespan Presentation Title Approach to the Dysmorphic Child Presentation Title The first two years [medfaculty.slu.edu]

Our patient presented most of the characteristics initially described by Say et al. (1975), though cystic renal dysplasia was not observed. [scielo.br]

The similarity of the reported cases with deletions involving 21q22 with the clinical presentation of the two patients with Braddock-Carey syndrome resulted in a reinvestigation of the genetic etiology of these two patients 20 years after the original [pubmed.ncbi.nlm.nih.gov]

The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. [karger.com]

That's how he presents his marriage plans to his parents. MR. BRADDOCK: This whole idea sounds pretty half-baked. BENJAMIN: Oh no, it's not. It's completely baked. It's a decision I've made. [shmoop.com]

• Short Stature

  We report on a Brazilian boy, born to nonconsanguineous parents, who presented short stature, microcephaly, large ears, Robin sequence, hand anomalies, delayed bone age, and developmental delay. [scielo.br]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

• Poor Growth

  Medical Term Other Names Description Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally. [rarediseases.oscar.ncsu.edu]

• Hypertension

  Michael Gibson, M.S., M.D. [1] Synonyms and keywords: Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency. [wikidoc.org]

  Stomatology / 002B10C Facial bones, jaws, teeth, parodontium: diseases, semeiology / 002B10C02 Non tumoral diseases Pascal 002 Biological and medical sciences / 002B Medical sciences / 002B11 Pneumology / 002B11C Pulmonary hypertension. [pascal-francis.inist.fr]

  Hypertension Elevated blood pressure, Systemic hypertension, High blood pressure, Increased blood pressure [more] The presence of chronic increased pressure in the systemic arterial system. [rarediseases.oscar.ncsu.edu]

  Pulmonary arterial hypertension MedGen UID: 425404 •Concept ID: C2973725 • Disease or Syndrome Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by [ncbi.nlm.nih.gov]

  […] analysis., Molecular genetics and metabolism, 144-53 Journal Retinal hemorrhages in an 8-year-old child: an uncommon presentation of abusive injury., Pediatric emergency care, 118-20 Journal A new recessive syndrome with VATER-like defects, pulmonary hypertension [medfaculty.slu.edu]

• Blue Sclera

  Blue sclerae Blue sclera, Bluish sclerae, Blue outer white part of eyeball [more] An abnormal bluish coloration of the sclera. [rarediseases.oscar.ncsu.edu]

  Blue sclerae MedGen UID: 154236 •Concept ID: C0542514 • Finding An abnormal bluish coloration of the sclera. [ncbi.nlm.nih.gov]

  Overview Braddock syndrome is characterised by the association of VACTERL-like defects, pulmonary hypertension, abnormal ears, blue sclerae, laryngeal webs, and persistent growth deficiency. [wikidoc.org]

  sclera, laryngeal webs, and persistent growth deficiency., American journal of medical genetics. [medfaculty.slu.edu]

• Bluish Sclerae

  Blue sclerae Blue sclera, Bluish sclerae, Blue outer white part of eyeball [more] An abnormal bluish coloration of the sclera. [rarediseases.oscar.ncsu.edu]

@*Conclusions@#With the treatment of thrombocytopenia before operation, complete hematischesis during the operation, and postoperative treatment of thrombocytopenia, mandibular distraction osteogenesis was a feasible and safe management of upper airway [pesquisa.bvsalud.org]

Directions to Hospitals Treating Braddock syndrome Risk calculators and risk factors for Braddock syndrome Healthcare Provider Resources Symptoms of Braddock syndrome Causes & Risk Factors for Braddock syndrome Diagnostic studies for Braddock syndrome Treatment [wikidoc.org]

It is important to distinguish between nsPRS and sPRS as the treatment strategy in the latter would have to account for PRS and the associated syndrome. [karger.com]

[…] with sagittal craniosynostosis and hydrocephalus; Braddock-Jones-Superneau syndrome; Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome; Sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus About the Disease Diagnosis & Treatment [rarediseases.info.nih.gov]

Smith Workshop on Malformations and Morphogenesis Sponsoring Organization Greenwood Genetic Center Location Lake Arrowhead, CA Presentation Title FASD: A Community-Based Approach to Diagnosis and Treatment Conference or Meeting Name Organization of Teratogen [medfaculty.slu.edu]

PMID: 15172002 Prognosis Braddock SR, South ST, Schiffman JD, Longhurst M, Rowe LR, Carey JC Am J Med Genet A 2016 Oct;170(10):2580-6. Epub 2016 Aug 23 doi: 10.1002/ajmg.a.37870. [ncbi.nlm.nih.gov]

Summary of genetic mutations in PRS Discussion It is a well-known fact that accurate diagnosis aids in treatment planning and determination of prognosis. [karger.com]

This investigation provides evidence that the etiology of this and other "Fanconi-like" disorders represent a newly recognized contiguous gene deletion syndrome involving 21q22 and specifically, the RUNX1 gene. © 2016 Wiley Periodicals, Inc. [pubmed.ncbi.nlm.nih.gov]

[…] rib cage morphology Hemivertebrae Pectus excavatum Posterior rib fusion Abnormality of the respiratory system Abnormality of the larynx Laryngeal web Ear malformation Posteriorly rotated ears Growth abnormality Fetal growth restriction Short stature Etiology [ncbi.nlm.nih.gov]

Part A, 817-821 Journal Redefining the Etiologic Landscape of Cerebellar Malformations, American journal of human genetics, 606-615 Journal De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual [medfaculty.slu.edu]

Obesity, obstructive sleep apnea and type 2 diabetes mellitus: Epidemiology and pathophysiologic insights. Sleep medicine and disorders: international journal. 2018; 2(3): 52–58. Humphries K, Traci MA, Seekins T. [revista.nutricion.org]

Alexander G Bassuk, Maya Chopra, Guido Rubboli, Rikke S Møller Eur J Hum Genet, 2021 Aug, PMID: 34092786 PMCID: PMC8385026 DOI: 10.1038/s41431-021-00912-y – 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology [maladiesrares-necker.aphp.fr]

Obesity, obstructive sleep apnea and type 2 diabetes mellitus: Epidemiology and pathophysiologic insights. Sleep medicine and disorders: international journal. 2018; 2(3): 52–58. Humphries K, Traci MA, Seekins T. [revista.nutricion.org]

PMID: 27782131. 2015 ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy.Albright RA, Stabach P, Cao W, Kavanagh D, Mullen I, Braddock AA, Covo MS, Tehan M, Yang G, Cheng Z, Bouchard [medicine.yale.edu]

Alcohol Consumption During Pregnancy Sponsoring Organization Missouri Substance Abuse Prevention Network Presentation Title Braddock-Carey syndrome: A twenty year journey ends with a new microdeletion syndrome. [medfaculty.slu.edu]

Pelet, A ; Skopova, V ; Steuerwald, U ; Baresova, V ; Zarhrate, M ; Plaza, JM & al Hum Mol Genet, 2019 Nov 15, PMID: 31600779 DOI: 10.1093/hmg/ddz237 – [Child psychiatry interventions in patients with 22q11 deletion syndrome: From treatment to prevention [maladiesrares-necker.aphp.fr]