Craniofacial Medicine: Clinical Pearls and Common

CasesEmily Gallagher, MD, MPH

Doernbecher Annual Review and Update

October 17, 2019OHSU

Objectives

• Evaluating infant heads

• Understanding when to refer or not to refer

• Syndrome recognitionOHSU

Evaluating infant heads

• Head size: when to worry?• Note relationship to other growth parameters

• Measure parent/sibling head sizes

• Developmental assessment

• Few management guidelines exist!OHSU

Fontanel size

• Children with rapidly growing brains and normal bone have big fontanels• Hydrocephalus, benign macrocephaly

• Children with normal brains and poor bone growth have big fontanels• Hypothyroidism, cleidocranial dysplasia

• Children with poorly growing brains and normal bone have small fontanels• Primary microcephaly, hypoxic brain injury

• Children with normal brains and rapidly growing bone have small fontanels• Craniosynostosis, hyperthyroidism

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12 month old boy

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Another 12 month old boy

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Previously healthy girl

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2 year old girl, mild delays

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Head size: when to worry?

• Macrocephaly• Associated with delays

• Dysmorphic features

• Departing normal growth curve• Hydrocephalus

• Note parental head size

• Common:• Benign familial macrocephaly

• Increased extra-axial fluid

• Microcephaly• Hypoxic birth injury

• CNS malformation

• In utero exposure• Alcohol, drugs

• Syndromes

• Metabolic disorder• Maternal or infant

• Congenital infection

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Mechanics of head shape differences

• Intrinsic: calvarial development• Craniosynostosis: premature

fusion of infant suture

• Extrinsic: plagiocephaly• The Epidemic

• Treatment: when is it “necessary”?OHSU

Deformational plagiocephaly

• Deformation of the calvaria from extrinsic forces

• Onset can be prenatal or postnatal• Prenatal: in utero molding or constraint

• Postnatal: usually head position preference

• Natural history• Prenatal onset: spontaneous improvement

• Postnatal onset: noticed at 1-2 months, worsens until 5-6 monthsOHSU

Most important views when examining a head

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• Not a disease• Parent’s decision

• Emphasis on prevention• Referral by 6 months $3500

Johnny Jump Up$20-30

Ergo$100

Moby$50

Bumbo$35

Exersaucer$50

Tummy time$0

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Calvarial sutures and normal closure

Metopic

Coronal

Sagittal

Lambdoid

SUTURE CLOSURE BEGINS

Metopic 3-9 months

Sagittal 22 years

Coronal 24 years

Lambdoid 26 yearsOHSU

Single suture craniosynostosis

metopic coronal

sagittal lambdoid

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A

BOHSU

A B

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A B

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A B

Horizontal Skull Base

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A B

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A B C

NAME THE DIAGNOSIS?

Metopicsynostosis

Positional plagiocephaly

Sagittal synostosis

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Syndrome evaluation in patients with clefts

How often do patients with cleft lip and/or palate have syndromes or associated malformations?

• CLP: 15-25%• CP: 50%

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A B C

B: Midline cleft is never normalMidline encephalocele

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A B

A: Holoprosencephaly

• Hypotelorism, depressed nasal bridge• Midline cleft lip and palate • Pyriform aperture stenosis• Single central incisor

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Robin SequenceMicrognathiaGlossoptosis

Upper airway obstruction+/- cleft palate

Stickler syndrome~30% of children with RS

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TP63 Gene Mutations• 1 gene, 6 syndromes• Ectodermal dysplasia• Clefting• Sparse hair• Risk of hyperthermia• Cone teeth or hypodontia

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