[…] branchial arches. [1], [2] In approximately 5 to 15% of the cases, mild mental retardation may also be present. [jfmpc.com]

All ears with microtia (20 ears) had hearing loss: four (20%) presented conductive hearing loss; six (30%) presented mixed hearing loss; eight (40%) presented sensorioneural hearing loss. [nature.com]

Some tissue(s) of the eye may fail to close, presenting as a notch (coloboma) of varying size. In about one-third of cases, the patient presents with a cyst on the eye (dermoids cyst). [rarediseases.org]

Our present patient presented with minimal facial features, but with profound limb defects of preaxial radial ray-thumb aplasia entity. Autosomal recessive pattern of inheritance was suggested in connection with parental consanguinity. [casesjournal.biomedcentral.com]

• Short Stature

  59 32 hallmark (90%) Very frequent (99-80%) HP:0010038 22 malar flattening 32 HP:0000272 23 short stature 32 HP:0004322 24 downslanted palpebral fissures 32 HP:0000494 25 elbow dislocation 32 HP:0003042 26 genu varum 32 HP:0002970 27 split hand 32 HP [malacards.org]

  short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. [mendelian.co]

  Congenital radio-ulnar synostosis Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome Radio-ulnar synostosis in Williams syndrome Mutations [documentslide.com]

  2nd metacarpal ; Short humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs - Source OMIM:171480 (names, synonyms, disease associated genes), Orphanet [mousephenotype.org]

• Hearing Impairment

  In addition, hearing impairment and mild psychomotor delay have also been reported. [mendelian.co]

  impairment ; Congenital earlobe sinuses ; Downslanted palpebral fissures ; Elbow dislocation ; Fibular hypoplasia ; Genu varum ; Lateral clavicle hook ; Long clavicles ; Long philtrum ; Malar flattening ; Mesomelic arm shortening ; Microtia ; Midface [mousephenotype.org]

  impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405 6 deep philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002002 7 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482 8 stenosis of the external auditory [malacards.org]

  impairment due to dysgenesis Distal trisomy 19q Ichthyosis male hypogonadism cochleosaccular degeneration Stickler syndrome vitreous type 2 Ichthyosis mental retardation and autosomal dominant nonsyndromic ASP Distal duplication 1p36 asymptomatic spasticity [yumpu.com]

• Short Humerus

  2nd metacarpal ; Short humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs - Source OMIM:171480 (names, synonyms, disease associated genes), Orphanet [mousephenotype.org]

  humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792 19 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813 20 asymmetric radial dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006420 21 short 2nd metacarpal [malacards.org]

• Sinus Arrhythmia

  MalaCards integrated aliases for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia: Name: Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 57 Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome 59 [malacards.org]

  Preferred Name Stoll Levy Francfort syndrome Synonyms Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia ID http://purl.bioontology.org/ontology/MESH/C537498 altLabel Phocomelia-ectrodactyly, ear malformation, deafness, and sinus [purl.bioontology.org]

  […] maxillary hypoplasia) and sinus arrhythmia. [monarchinitiative.org]

  Name Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia Synonyms FACIOAURICULORADIAL DYSPLASIA Classification bone, developmental, genetic, otorhinolaryngological Phenotypes Absent radius ; Anterior vertebral fusion ; Aplasia/Hypoplasia [mousephenotype.org]

  The sinus arrhythmia consisted of variable P-P intervals in the electrocardiogram without relationship to respiration. They found no report of this precise combination. [omim.org]

Standard Therapies Treatment The treatment of OAVS is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

The aim of this study was to compare the results of the intramedullary nail and locking compression plate for the treatment of humeral shaft fractures. [readbyqxmd.com]

[…] income (AOR 1.83, 95% CI 1.51-2.23), any history of antiretroviral therapy (AOR 1.78, 95% CI 1.38-2.29), retention in HIV care (AOR 1.36, 95% CI 1.04-1.77), a history of sexually transmitted diseases (AOR 1.96, 95% CI 1.50-2.56), and any history of treatment [pubpharm.de]

Without treatment, this defect is usually fatal within the first weeks More information THE EYES IN CHARGE: FOR THE OPHTHALMOLOGIST Roberta A. Pagon, M.D. [docplayer.net]

Archivos Argentinos de Pediatría # 103 Baobiao Zhuo, Hongwei Zhang, Yiyu Yin, Tongsheng Ma, Fengli Liu, Hui Cao, Huaxin Zou OBJECTIVE: To explore the value of rectal mucosa stripping and pull-through from rectal muscle sheath of blind pouch in the treatment [read.qxmd.com]

Several genes have been implicated in cases of syndromic OA/TOF, but no single specific chromosomal and monogenic defect has been confirmed as a main etiological factor. [read.qxmd.com]

Case report and etiologic considerations. Am J Ophthalmol. 1971 Sep;72(3):618–621. [PubMed] [Google Scholar] Proto F, Scullica L. Contributo allo studio della ereditarietà dei dermoidi epibulbari. [ncbi.nlm.nih.gov]

The etiology is not known, but various theories suggest that exposure to viruses during pregnancy, abnormal vascular supply to the first arch, and abnormality of mesoblastic development are reponsible. [jfmpc.com]

J Pediatr 1963; 63 : 991–999. 12 Mandelcorn MS, Merin S, Cardarelli J : Goldenhar's syndrome and phocomelia Case report and etiologic considerations. [nature.com]

Am J Med Genet 2001; 98:210-5 Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD.A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics 1983; 71:815-20 Kim JH, Kim PCW, Hui C. [rrnursingschool.biz]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.de]

Papanicolaou Test |6 D065006 |a *statistics & numerical data |6 Q000706 653 2 |a Population Surveillance |6 D011159 653 2 |a Prevalence |6 D015995 653 2 |a Retrospective Studies |6 D012189 653 2 |a Socioeconomic Factors |6 D012959 653 2 |a Taiwan |6 D013624 |a epidemiology [pubpharm.de]

The parents of one out of every 28 babies receive the frightening news that their baby has a birth defect There More information Genetic and Developmental Diseases Genetic and Developmental Diseases Course Pathophysiology Unit VII Pathology Across the [docplayer.net]

Prevalence |6 D015995 653 2 |a Retrospective Studies |6 D012189 653 2 |a Socioeconomic Factors |6 D012959 653 2 |a Taiwan |6 D013624 |a epidemiology |6 Q000453 653 2 |a Uterine Cervical Neoplasms |6 D002583 |a *diagnosis |6 Q000175 |a ethnology |6 Q000208 |a prevention [pubpharm.de]

Instead of polyethylene bivalve functional brace four plaster sleeves wrapped and molded with little more proximal extension expected to prevent nonunion of proximal third fractures. [readbyqxmd.com]

The father of the pro- posita and her paternal grandfather (36 and 70 yearsold, respectively) had severe radio-ulnar synostosiswhich prevented supination and pronation. Both mentended to keep their forearms flexed with the palms fac-ing each other. [docslide.net]