Results 41 to 50 of about 2,355 (68)
Precocious puberty in McCune-Albright syndrome: a case report [PDF]
, 2018 McCune-Albright syndrome (MAS) is a rare disease characterized by a triad of fibrousdysplasia, cafe-au-lait spots and peripheral precocious puberty. We reported a 5-year-8-month old girl with MAS who has been followed-up for 2 years and 8 months.
Julia, Madarina +2 more
core +1 more source
Improved Molecular Diagnosis of McCune–Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR [PDF]
, 2019 McCune-Albright syndrome (MAS) is a rare congenital disorder characterized by the association of endocrine and nonendocrine anomalies caused by somatic activating variants of GNAS.
Bergallo, M. +2 more
core +5 more sources
Escondido pelo cabelo - um caso de puberdade precoce [PDF]
, 2020 McCune-Albright syndrome (MAS) is one of the conditions causing precocious gonadotropin-independent puberty. It is a rare disease, characterized by two of the three following features: precocious puberty, polyostotic fibrous dysplasia (PFD), and café au ...
Costa, Sara T. +4 more
core +1 more source
Segmental corymbiform congenital melanocytic naevi: Implications for melanocytic embryology
Journal of the European Academy of Dermatology and Venereology, EarlyView.
Nicole Knöpfel +10 more
wiley +1 more source
Skin Research and Technology, Volume 30, Issue 10, October 2024.ABSTRACT Background Down syndrome (DS), a common chromosomal anomaly caused by trisomy of chromosome 21, is characterized by a broad spectrum of phenotypic characteristics across multiple organ systems, including cardiac defects and leukemia. Dermatological findings are prevalent among individuals with DS; however, these issues are frequently ...
Gökhan Kaya, Ceren Alavanda
wiley +1 more source
McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia [PDF]
, 2012 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 ...
Collins, Michael T +3 more
core +3 more sources
Clinical Endocrinology, Volume 101, Issue 3, Page 223-233, September 2024.Abstract The spectrum of thyroid disorders presenting to paediatricians is different to that seen by adult physicians. Referrals reflect cases detected by the neonatal screening programme for congenital hypothyroidism and many of the inherited defects of thyroid hormone generation or action will be manifest in early life. Autoimmune thyroid disease can
Timothy Cheetham, Claire Wood
wiley +1 more source
Dental Perspectives in Fibrous Dysplasia and McCune-Albright Syndrome [PDF]
, 2013 McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (PFD), endocrine disorders and café-au-lait skin pigmentation.
Akintoye, Sunday O +2 more
core +2 more sources
Brain imaging in children with neonatal cholestatic liver disease: A systematic review
Acta Paediatrica, Volume 113, Issue 6, Page 1168-1185, June 2024.Abstract Aim To determine if children with neonatal cholestatic liver disease had concurrent and later findings on brain imaging studies that could be attributed and the cholestasis to contribute to the understanding of the impaired neuropsychological development.
Thora Wesenberg Helt +6 more
wiley +1 more source
Hot water epilepsy and Mccune–Albright syndrome: A case report [PDF]
, 2009 We observed a 15-year-old Caucasian boy with a rare form of reflex epilepsy, known as hot water epilepsy (HWE), associated to McCune–Albright syndrome (MAS).
Belcastro, Vincenzo +5 more
core +1 more source