Abnormal Midface



Abnormal Midface


Roya Sohaey, MD



DIFFERENTIAL DIAGNOSIS


Common



  • Midface Hypoplasia


  • Absent/Small Nasal Bone (NB)


  • Trisomy 21


  • Trisomy 13


  • Cleft Lip, Palate


  • Holoprosencephaly Spectrum


Less Common



  • Skeletal Dysplasia


Rare but Important



  • Warfarin (Coumadin) Exposure


ESSENTIAL INFORMATION


Key Differential Diagnosis Issues



  • Obtain profile view routinely



    • Assess nasal bone



      • Should be present in first trimester


      • > 2.5 mm in second trimester


    • Note relationship of maxilla to mandible



      • Mandible slightly posterior to maxilla


    • Use 3D to reconstruct profile if not obtained by 2D


  • Look for intact lip and palate routinely



    • Coronal nose/lip view



      • Axial palate view if suspect defect


    • 3D ultrasound helpful


  • Cleft lip/palate (CL/CP) classification



    • Type 1: CL only, no CP


    • Type 2: Unilateral CL and CP


    • Type 3: Bilateral CL and CP


    • Type 4: Midline CL and CP


    • CP only is rare and difficult to diagnose



      • Posterior soft tissue defect


      • MR may be a better test


Helpful Clues for Common Diagnoses



  • Midface Hypoplasia



    • Flat profile



      • Depressed nasal bridge


    • Maxillary hypoplasia



      • Maxilla lines up with mandible


      • Reverse overbite, if severe


    • Often associated with other craniofacial anomalies



      • Craniosynostosis


      • Hypotelorism


      • Hypertelorism


      • Cleft lip and palate


  • Absent/Small Nasal Bone (NB)



    • Absent NB in first trimester



      • Assess for NB at time of nuchal translucency screening


    • Small NB in second trimester



      • < 2.5 mm at 15-20 wks


    • Marker for trisomy 21, but most often seen in normals, especially in Asian population


    • Likelihood ratios (LR) of trisomy 21



      • LR of 35 if absent NB in 1st trimester


      • LR of 9 if small NB in 2nd trimester


  • Trisomy 21



    • Flat face



      • Small nose


      • Midface hypoplasia


    • Other markers



      • Increased nuchal translucency/fold


      • Mild ventriculomegaly


      • Short humerus/femur


      • Echogenic bowel


      • Echogenic cardiac focus


      • Renal pelviectasis


      • Clinodactyly


    • Major anomalies



      • Atrioventricular septal defect


      • Duodenal atresia


  • Trisomy 13



    • Holoprosencephaly (40%)



      • + Associated facial anomalies


      • Type 3 or 4 cleft lip/palate


    • Polydactyly (75%)


    • Cardiac defects (80%)


    • Echogenic cystic kidneys (50%)


    • Intrauterine growth restriction (50%)


  • Cleft Lip, Palate



    • Nose is affected by CL/CP



      • Cleft extends to nares


      • Flat nares with types 1, 2


    • Flat midface



      • Most common with type 4


      • Nose invaginates towards defect


    • Premaxillary protuberance



      • Mass-like area just below nose


      • 2° to dysplastic anterior palate


      • Most often seen with type 3 CL/CP


      • Large type 2 with abnormal profile also


    • CL/CP associations



      • Trisomy 18, 13


      • Holoprosencephaly


    • Aneuploidy and type of CL/CP



      • Type 1: Rare



      • Type 2: 20%


      • Type 3: 30%


      • Type 4: 50%


  • Holoprosencephaly Spectrum



    • Alobar, semilobar, lobar


    • Cyclopia with proboscis


    • Ethmocephaly



      • Proboscis with hypotelorism


    • Cebocephaly



      • Flat nose with single nostril


    • Median cleft lip/palate


Helpful Clues for Less Common Diagnoses



  • Skeletal Dysplasia



    • Thanatophoric dysplasia



      • Cloverleaf skull (Kleeblattschädel)


      • Frontal bossing


      • Short upturned nose


      • Depressed nasal bridge


      • Micromelia


      • “Telephone receiver” femur


      • Platyspondyly


    • Achondroplasia (heterozygous)



      • Frontal bossing


      • Depressed nasal bridge


      • Progressive rhizomelia


      • Trident hands


    • Achondroplasia (homozygous)



      • Severe and early bone shortening


      • Lethal

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Aug 10, 2016 | Posted by in OBSTETRICS | Comments Off on Abnormal Midface

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