Libro blanco de las ACES Pediátricas 2024

Libro Blanco de las ACES Pediátricas 2024 170 ❚ 34 16 Other SGA syndromes with short stature; associated with micro-, normo- and macrocephaly; with or without increased risk of malignancy • 3-M syndrome • Bloom syndrome • Fanconi anaemia • Floating Harbour syndrome • Mulibrey Nanism • Nijmegen breakage syndrome • Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) • Meier Gorlin syndrome • SHORT (Short stature,Hyperextensibility/Hernia, Ocular depression, Rieger anomaly, Teething delay) syndrome C,D 16 Undernutrition and poor weight gain • Underlying chronic conditions or treatments • Impact on linear growth and puberty • Anorexia nervosa • Diencephalic syndrome C,D E. GROWTH - TALL STATURE AND OVERGROWTH 1 Definition of tall stature B 2 Tall stature • Classification, normal variant, pathological • Management: supportive, surgical (epiphysiodesis) C 3 Marfan syndrome • Growth • Other problems: eye and cardiac C 4 Klinefelter syndrome 7 • Growth and puberty • Other problems: fertility, metabolic syndrome, bone health, psycho- social and mental health, autoimmunity, transition to adult care C 5 Beckwith Wiedemann syndrome 8 • Genetics, growth, hypoglycemia, tumor risk C 6 Syndromic overgrowth due to altered epigenetic regulation and activation of the PI3K/mTor pathway • Sotos syndrome (mutation in NSD1 gene) • Weaver syndrome (mutation in EZH2 gene) • Tatton-Brown-Rahman syndrome (mutation in DNMT3A gene) C