Tall stature and overgrowth syndromes — branching viva

Branching viva on tall stature and overgrowth syndromes: redistributing the tall child from the familial normal variant to the pathological cause using a structured assessment, recognising the Beckwith-Wiedemann tumour-risk fingerprint, distinguishing the syndromic overgrowth disorders, and managing the marfanoid child and the child with growth-hormone excess.

branching clinical structured oral1 min readVerification in progress

Prompt

Outpatient clinic: a six-week-old large-for-gestational-age infant with macroglossia, an umbilical hernia, and a left leg that is longer and thicker than the right. The examiner asks: what is the diagnosis, which molecular test confirms it and defines the tumour-risk subgroup, and what is the surveillance plan — then branches to the genetics of overgrowth syndromes, the management of a marfanoid adolescent, and finally to the general principle of how to approach the tall child in clinic.

Opening question

A six-week-old large-for-gestational-age infant has macroglossia, an umbilical hernia, and hemihyperplasia of the left leg. What is the most likely diagnosis, which molecular test confirms it and defines the tumour-risk subgroup, and what is the immediate and long-term surveillance plan? [2] [9]

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You have read the opening of this viva. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.

References4Show ledger

[2]Brioude F, Kalish JM, Mussa A, et al. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome. Nat Rev Endocrinol, 2018.PMID 29377879
[6]Caro R, Savel P, Moss PI. Evaluation of Short and Tall Stature in Children. Am Fam Physician, 2025.PMID 40531152
[8]Tatton-Brown K, Loveday C, Yost S, et al. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. Am J Hum Genet, 2017.PMID 28475857
[9]Maas SM, Vansenne F, Kadouch DJ, et al. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. Am J Med Genet A, 2016.PMID 27419809