Slide 1 Everything You Need To Know About Content Marketing Hana Abaza, Director of Marketing at Uberflip @hanaabaza 1 WHY IT’S HOT Authoring – Create your content.… All About Beer PowerPoint Presentation Text Me: Do's & Don'ts of Presentation Design [docslide.net]

If patellar anomalies are present, and microtia and short stature are absent, nail patella syndrome should be considered. [ojrd.biomedcentral.com]

We have described two females with EPS syndrome in which both breast hypoplasia and disproportionate short stature were present. These features may be associated with the EPS syndrome. [jmg.bmj.com]

The objective is to present two unrelated patients with a 10-year-old male and female patients with Meier Gorlin syndrome type 1, the latter being the second report in the Mexican population. [go.gale.com]

In addition, characteristic features of the head and face may be present including a small mouth (microstomia), with full lips, small circumference of the head (microcephaly), and/or underdevelopment (hypoplasia) of the upper (maxillary) and/or lower [hekim.org]

• Short Stature

  Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clinical Dysmorphology, 3 (3), pp. 207-14. Boles RG, et al. Further Delineation of the Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome). [unboundmedicine.com]

  Am JMed Genet 64:447452.Boles RG, Teebi AS, Schwartz D, Harper JF (1994): Further delineation ofthe ear, patella, short stature syndrome (Meier-Gorlin syndrome). [documents.tips]

  Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? J Med Genet. 2000;37:719–21. [springermedizin.de]

  Synonyms of Ear, Patella, Short Stature Syndrome EPS Meier-Gorlin Syndrome Microtia, Absent Patellae, Micrognathia Syndrome Disorder Subdivisions General Discussion Ear-patella-short stature syndrome (EPS), also known as Meier-Gorlin syndrome, is a rare [hekim.org]

  In Seckel syndrome, short stature is proportionate, as in MGS. [ojrd.biomedcentral.com]

• Feeding Difficulties

  difficulties ; Global developmental delay ; Hearing impairment ; High, narrow palate ; Hypoplasia of penis ; Hypoplasia of the maxilla ; Hypoplastic labia majora ; Hypoplastic labia minora ; Hypospadias ; Intellectual disability ; Intrauterine growth [mousephenotype.org]

  Additional findings may include various skeletal abnormalities, early feeding difficulties, and poor weight gain. [hekim.org]

  Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial dysmorphism-hand anomalies syndrome Intellectual disability-feeding [se-atlas.de]

• Disproportionate Short Stature

  Kuijpers, G.M.C., 2000 : Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: Expansion of the phenotype?. [wwe.geoscience.net]

  Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? J Med Genet. 2000;37:719–21. [springermedizin.de]

• Proportionate Short Stature

  In Seckel syndrome, short stature is proportionate, as in MGS. [ojrd.biomedcentral.com]

  Abstract Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. [springermedizin.de]

• Weight Gain

  Additional findings may include various skeletal abnormalities, early feeding difficulties, and poor weight gain. [hekim.org]

  Definition A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. [uniprot.org]

• No Pubic Hair

  Axillary hair is often sparse or absent, while pubic hair generally is normal in both males and females. Furthermore, patients with MGS have a recognizable facial phenotype with microstomia, full lips and retro-/micrognathia at young age (Fig. 1 ). [ojrd.biomedcentral.com]

• Hearing Impairment

  impairment ; High, narrow palate ; Hypoplasia of penis ; Hypoplasia of the maxilla ; Hypoplastic labia majora ; Hypoplastic labia minora ; Hypospadias ; Intellectual disability ; Intrauterine growth retardation ; Joint hyperflexibility ; Low-set ears [mousephenotype.org]

• Low Set Ears

  […] delay ; Hearing impairment ; High, narrow palate ; Hypoplasia of penis ; Hypoplasia of the maxilla ; Hypoplastic labia majora ; Hypoplastic labia minora ; Hypospadias ; Intellectual disability ; Intrauterine growth retardation ; Joint hyperflexibility ; Low-set [mousephenotype.org]

• Withdrawn

  […] symbols: HSORC1, ORC1L, PARC1 ), GMNN (Withdrawn symbols: Gem ), CDC45 (Withdrawn symbols: CDC45L, CDC45L2 ), ORC4 (Withdrawn symbols: HsORC4, ORC4L, Orc4p ), CDT1 (Withdrawn symbols: DUP, RIS2 ), CDC6 (Withdrawn symbols: CDC18L ), ORC6 (Withdrawn symbols [mousephenotype.org]

• Clitoral Hypoplasia

  […] hypertrophy ; Clitoral hypoplasia ; Craniosynostosis ; Cryptorchidism ; Delayed skeletal maturation ; Elbow dislocation ; Epispadias ; Failure to thrive ; Feeding difficulties ; Global developmental delay ; Hearing impairment ; High, narrow palate ; [mousephenotype.org]

• Clitoromegaly

  Clitoromegaly was found in two of the four re-ported cases, while in the other two, information wasnot available. Prominent eyes were noted in the Boleset al. [1996] cases. [documents.tips]

Neuroradiographic imaging and functional inner ear investigations are recommended in the diagnostic workup of this rather specific, probably autosomal recessive mental retardation syndrome with multiple congenital anomalies. [ncbi.nlm.nih.gov]

• Delayed Bone Age

  Many also suffer from scoliosis, hip dislocation, delayed bone age, radial head dislocation, and seizures. [isabellasbigdreams.co.uk]

  A delayed bone age and genu recurvatum are often seen in patients with MGS. Joint contractures, including club feet, were present in 23 % (7/30) of patients. Not much is known about the reproduction of patients with MGS. [ojrd.biomedcentral.com]

Growth and growth hormone treatment Growth hormone treatment was effective in only four patients, one with ORC4 mutations, one with CDC6 mutations and two without mutations [ 4, 23 ]. [ojrd.biomedcentral.com]

The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. [hekim.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Possible treatments include surgery to remove the tumor, medicines, and radiation therapy. [icdlist.com]

[…] brachydactyly, and premature birth: A new autosomal dominant syndrome Dwarfism, rhizomelic limb shortness, and abnormal face: New short stature syndrome sharing some manifestations with Robinow syndrome Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related [documents.mx]

Prognosis Life span is expected to be normal for most individuals with MGS. Osteoarthritis of the knees, secondary to patellar anomalies, may occur at a younger age than usual. [ojrd.biomedcentral.com]

Discussion and conclusion: Recognizing and giving multidisciplinary follow-up will help to know the etiology of the disease, as well as its evolution, management and genetic counseling. [go.gale.com]

Epidemiology Until now, 67 patients with MGS have been described since the first reported patients by Meier in 1959 and Gorlin in 1975 (30 males; 36 females; 1 of unknown sex; age range 0.3-55 years) [ 1 – 22 ]. [ojrd.biomedcentral.com]

Experientia 27(3): 301-303 Nunan, J., 1992: Prevention of dehydration and calcium depletion in deserticolous geckos. Dactylus, 12: 13-17 Fay, RO.; Graffham, AA., 1982: Biostratigraphic and paleontological studies. [wwe.geoscience.net]

Growth disorders are problems that prevent children from developing normal height, weight, sexual maturity or other features. Very slow or very fast growth can sometimes signal a gland problem or disease. [icdlist.com]

System EPS Evolutionary Programming Society EPS Environment Protectors Society EPS Experimental Psychology Society EPS Edinburgh Photographic Society EPS Engineering Purchase Specification EPS Engineered/Engineering Performance Standard EPS Epidemic Prevention [abbreviationfinder.org]

Equipment Performance Specification EPS Environmental Priority Strategies EPS Engineering and Professional Services Incorporated EPS Encased Postage Stamp EPS Environmental Portfolio Standard EPS Enterprise Password Safe (computer passwords) EPS Epidemic Prevention [acronyms.thefreedictionary.com]

This work was supported by funding from the MRC and Lister Institute of Preventative Medicine. A.P.J. is an MRC Senior Clinical Fellow and Lister Institute Prize fellow. [nature.com]