Congenital nasal pyriform aperture stenosis in association with solitary median maxillary central incisor: unique radiologic features [PDF]
Solitary median maxillary central incisor (SMMCI) coexists in 34%-65% of patients initially diagnosed with congenital nasal pyriform aperture stenosis. SMMCI, a genetic syndrome, warrants consideration for further screening because of its high prevalence
Inman, Jared C.+3 more
core +1 more source
Chronic Bilateral Slipped Capital Femoral Epiphysis as an Unusual Presentation of Congenital Panhypopituitarism due to Pituitary Hypoplasia in a 17-Year-Old Female [PDF]
We report an interesting case of a 17-year-old normal-statured female who was diagnosed with congenital panhypopituitarism due to pituitary hypoplasia at the presentation of bilateral slipped capital femoral epiphysis.
Bowden, Sasigarn A., Klingele, Kevin E.
core +3 more sources
Pituitary deficiencies related to optic nerve hypoplasia and visual acuity
Abstract Objective Optic nerve hypoplasia (ONH), the congenital underdevelopment of the optic nerve, is an increasing cause of visual impairment and is associated with pituitary dysfunction. Past studies have focused on the relationship between ONH, pituitary deficiencies, and brain imaging.
Alison Murray+3 more
wiley +1 more source
Abstract Background Dorsomedian nasopharyngeal masses with benign macroscopic appearance are frequently observed during retrograde nasopharyngoscopy, particularly in brachycephalic breeds, but are not well described. Hypothesis/Objectives To characterize these masses, assess their frequency, and identify the potential factors associated with their ...
Arthur Petitpre+4 more
wiley +1 more source
Imaging of pediatric pituitary endocrinopathies
Accurate investigation of the hypothalamic-pituitary area is required in pediatric patients for diagnosis of endocrine-related disorders. These disorders include hypopituitarism, growth failure, diencephalic syndrome, delayed puberty, precocious puberty,
Vikas Chaudhary, Shahina Bano
doaj +1 more source
Introdução: O hipopituitarismo é caracterizado por insuficiência da secreção hormonal hipófisária. A clínica é variável e depende da etiologia, evolução temporal e hormonas envolvi- das.
Afonso, Ariana+6 more
core
Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue
International audienceLHX4 is a LIM homeodomain transcription factor involved in the early steps of pituitary ontogenesis. To date, 8 heterozygous LHX4 mutations have been reported as responsible of combined pituitary hormone deficiency (CPHD) in Humans.
Barlier, Anne,+12 more
core +5 more sources
Thyroid function in children with growth hormone (GH) deficiency during the initial phase of GH replacement therapy - clinical implications [PDF]
BACKGROUND: Normal thyroid hormone secretion or appropriate L-thyroxine (L-T(4)) substitution is necessary for the optimal effect of the growth hormone (GH) administration on growth rate. The decrease of free thyroxine (FT(4)) levels at recombinant human
Andrzej Lewinski+3 more
core +2 more sources
Septo-optic dysplasia in an infant
Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his
Ermira Aliu, MD+14 more
doaj
Solitary median maxillary central incisor (SMMCI) syndrome
Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38th day(s) from conception. It is estimated
Hall Roger K
doaj +1 more source