Last reviewed: 26 Jun 2021
Last updated: 19 Apr 2018



History and exam

Key diagnostic factors

  • age <3 years
  • altered mental status: irritability/lethargy/coma
  • clinical findings inconsistent with carer history
  • retinal/vitreal hemorrhages or retinoschisis

Other diagnostic factors

  • no known history of trauma
  • apnea
  • seizure
  • vomiting
  • loss of muscle tone
  • brisk or asymmetric reflexes
  • unexplained bruising
  • increasing head circumference
  • bulging fontanelle
  • long-bone fractures
  • mucosal injury or torn labial/lingual frena
  • anogenital signs and symptoms

Risk factors

  • age <1 year
  • peak of normal crying curve
  • male caregiver
  • unrelated adult household member
  • male sex
  • socioeconomic stressors

Diagnostic investigations

1st investigations to order

  • cranial CT scan
  • CBC
  • liver function tests
  • toxicology screen
  • prothrombin/aPTT/fibrinogen/von Willebrand testing
  • urinalysis
  • CSF analysis

Investigations to consider

  • cranial MRI
  • cranial ultrasound
  • skeletal survey
  • bone scintigraphy
  • blood culture
  • serum calcium
  • serum 1,25-dihydroxy vitamin D levels (calcidiol)
  • serum inorganic phosphorus
  • serum parathyroid hormone (PTH)
  • serum alkaline phosphatase
  • skin biopsy/fibroblast culture
  • postmortem exam

Treatment algorithm



Barney Scholefield, MBBS, BSc, MSc, MRCPCH, PhD

Consultant in PICU

Senior Research Fellow

Birmingham Children’s Hospital




BS receives grant funding from the UK NIHR Clinician Scientist Fellowship programme.


Dr Barney Scholefield would like to gratefully acknowledge Dr Joe Brierley, Dr Gavin Wooldridge, and Dr Alice Newton, previous contributors to this monograph. JB, GW, and AN declare that they have no competing interests.

Peer reviewers

Amy Goldberg, MD

Attending Physician

Child Protection Team

Hasboro Children's Hospital

Assistant Professor of Pediatrics

Alpert Medical School

Brown University




AG declares that she has no competing interests.

Rebecca Moles, MD

Division Chief

Child Protection Program

UMass Memorial Medical Center




RM declares that she has no competing interests.

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