Revista Argentina de Radiología, 2011 Se presenta a un paciente de sexo femenino de 27 años de edad con el cuadro clásico de Síndrome de Mc Cune- Albright, caracterizado por: pubertad precoz, manchas color café con leche, displasia fibrosa poliostótica y gigantismo.
Javier Garcés +3 more
doaj
Síndrome de Mc Cune Albright: a propósito de un caso [PDF]
, 2010 Se presenta el caso de un niño varón de 6 años que tras presentar una clínica de claudicación a la marcha progresiva durante 3 meses, sin antecedente de traumatismo, es diagnosticado de fractura patológica de cuello femoral izquierdo en el contexto de un
Amor, M. +3 more
core
McCune-Albright Syndrome with Hypophosphatemic Rickets
Journal of the ASEAN Federation of Endocrine Societies, 2015 Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth ...
Manish Gutch +4 more
doaj
Genetic diseases of renal phosphate handling [PDF]
, 2017 UNLABELLED: Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1 ...
Biber, Jürg +3 more
core +3 more sources
A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome [PDF]
, 2004 Abdullah Karadağ
openalex +1 more source
Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome
JCRPE, 2019 McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication.
Nicole Coles +8 more
doaj +1 more source
EFFICACY OF HOMOGENOUS BONE GRAFTING IN MCCUNE-ALBRIGHT SYNDROME [PDF]
, 1985 A case of McCune-Albright syndrome is reported. The patient was a girl aged 8 years. The chief complaints were gait disturbance and a limp. Roentgenograms showed collapse and severe varus deformity of the femoral neck on the right side with 64° of neck ...
FUJITA, Atsushi +4 more
core
A rare case of solitary toxic nodule in a 3yr old female child – a case report [PDF]
, 2013 A three year old hyperactive female child presented with a midline neck swelling of one year duration. Clinical examination revealed a nodule in the isthmus of thyroid.Her Thyroid Stimulating Hormone (TSH) was suppressed and Free T3 and Free T4 levels ...
Karunakaran, Poongkodi +1 more
core +1 more source
Successful Outcome of Severe Fibrous Dysplasia of the Tibia in a Patient with Mccune-Albright Syndrome, Treated Using a Combined Ortho-Plastic Multidisciplinary Approach [PDF]
, 2019 Samena Chaudhry +3 more
openalex +1 more source
McCune-Albright syndrome case report [PDF]
Introduction: McCune Albright syndrome (SMA) is considered a rare genetic disease, characterized by bone dysplasia, endocrine disorders and hyperpigmentary skin lesions.
Cabrera Pacheco, Reinaldo +4 more
core +2 more sources