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250: PIERRE ROBIN SEQUENCE

Kay Tasso, PhD, PT, PCS

CONDITION/DISORDER SYNONYMS

  • Cleft Palate, Micrognathia, and Glossoptosis

  • Pierre Robin syndrome

  • Pierre Robin Malformation Sequence

  • Pierre Robin complex

  • Pierre Robin anomaly

  • Pierre Robin triad

  • Robin Anomalad

ICD-9-CM CODE

  • 756.0 Anomalies of skull and face bones1

ICD-10-CM CODE

  • Q87.0 Congenital malformation syndromes predominantly affecting facial appearance2

PREFERRED PRACTICE PATTERN

  • 5B: Impaired Neuromotor Development

PATIENT PRESENTATION

A 3-month-old infant is referred to physical therapy for hypotonia. The infant was recently diagnosed by the geneticist with Pierre Robin syndrome. His mother reports no difficulty with the pregnancy or delivery. The infant has a history of difficulty feeding due to micrognathia. Upon examination, the therapist notes the infant has poor head control and is unable to achieve prone-on-elbows. The infant is enrolled in an early intervention program and receives physical therapy to assist with gross motor skill acquisition. Therapy is also provided to assist with difficulty feeding.

KEY FEATURES

Description

  • Group of congenital malformations usually a triad combination

    • Cleft palate (92%)3

    • Micrognathia

      • Small lower jaw

    • Glossoptosis (70%–85%)3 at birth

      • Tongue tends to fall back toward the throat

Essentials of Diagnosis

  • May have failure to thrive or severe respiratory distress3

General Considerations

  • Present as emergencies in the newborn period because of airway restriction

  • May have clubfeet or hearing loss (60%)3

  • CNS defects (50%)3

    • Developmental delay

    • Hypotonia

    • Hydrocephalus

  • Infants with Pierre Robin syndrome may have Strickler syndrome and Velocardiofascial syndrome

  • Congenital heart disease in 15%4

FIGURE 250-1

Pierre Robin syndrome: Hypoplastic mandible associated with a ventricular septal defect. (From Fuster V, Walsh RA, Harrington RA. Hurst’s The Heart. 13th ed. Copyright © The McGraw-Hill Companies, Inc. All rights reserved.)

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Demographics

  • Affects males and females equally unless X-linked3

  • 1 in 8500 births5

CLINICAL FINDINGS

SIGNS AND SYMPTOMS

  • Breathing problems

  • Cleft soft palate

  • Ear infections

  • High arched palate

  • Large tongue6

  • Natal teeth

  • Small, retracted lower jaw

Functional Implications

  • Frequent ear infections5

  • Difficulty feeding

  • Decreased hearing

  • Delayed speech

Possible Contributing Causes

  • Unknown

  • May be a result of positioning of the fetus at the beginning of pregnancy

  • May be autosomal recessive3

Differential Diagnosis3

  • Stickler syndrome

  • Trisomy 11q

  • Trisomy 18

  • Möbius syndrome

  • CHARGE syndrome

MEANS OF CONFIRMATION OR DIAGNOSIS

Laboratory Tests

  • Genetic testing

  • DNA methylation analysis to ...

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