FETAL FACE NECK ANOMALIES BY AMANDA MEADOWS DMS

FETAL FACE & NECK ANOMALIES BY: AMANDA MEADOWS DMS 443

EMBRYOLOGY Ø 4 th week of gestation ØBranchial arches (6) Ø Mesoderm Ø Medial nasal & 2 maxillary prominences fuse by 8 weeks Ø Mandibular prominences merge at 4 th & 5 th weeks 1

FACIAL PROFILE ANTERIOR CEPHALOCELES Ø Herniation of brain and meninges through a defect in the skull Ø Amniotic Band Syndrome TRIGONOCEPHALY Ø Premature closure of the metopic suture Ø Elongated forehead (SAG) Ø Triangle shape (TRV) Ø Spina bifida (lemonshaped skull) 3

FACIAL PROFILE MIDFACE HYPOPLASIA Ø Underdevelopment of middle structures of face Ø Trisomy 21 FRONTONASAL DYSPLASIA Ø Median cleft face syndrome Ø Hyperterlorism 4

MASSES OF THE NOSE & UPPER LIP ØMay distort facial profile & indicate cleft lip ØEpignathus ØTeratoma 5

NOSE ABNORMALITIES ARHINIA PROBOSCIS ØAbsence of nose ØSingle-nostril nose 6

CLEFT LIP/ PALATE ACROCEPHALOPOLYSYNDACTYLY SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA AMNIOTIC BAND SYNDROME MECKEL-GRUBER SYNDROME ANENCEPHALY ROBERT’S SYNDROME CONGENITAL CARDIAC DISEASE PTERYGIUM SYNDROME DIASTROPHIC DYSPLASIA VELAMENTOUS CORD INSERTION HOLOPROSENCEPHALY ‘PIERRE ROBIN SEQUENCE (PRS) KNIEST DYSPLASIA STICKLER SYNDROME

CLEFT LIP/ PALATE ØMC congenital anomaly of the face ØAsian: 1 per 350 births ØCaucasian: 1 per 600 births ØAfrican American: 1 per 3000 births ØFamily history ØTrisomy 13, 18, 21, & triploidy ØLIP: Failure of primary and secondary palate fusion ØPALATE: Failure of lateral palatine processes fusion at midline

SONOGRAPHY NORMAL ABNORMAL

MACROGLOSSIA ØLarge tongue ØImpaired swallowing Ø Polyhydramnios ØBECKWITH-WIEDEMANN Ø Small stomach SYNDROME 11

MICROGNATHIA ØTrisomy 18 & triploidy Ø‘Pierre Robin syndrome ØTreacher Collins syndrome ØSmall chin ØFetal profile ØPolyhydramnios 12

CYSTIC HYGROMA ØMC neck mass ØMalformed lymphatic system ØCystic areas around posterior neck ØFetal hydrops Differentials: ØNuchal edema ØFetal Goiter 13

FETAL GOITER (THYROMEGALY) ØPolyhydramnios ØMaternal thyroid disease ØAnterior (region of thyroid) ØSmall stomach ØSymmetric, solid, homogenous mass 14

QUESTIONS #1: Anterior or Posterior? Anterior: FETAL GOITER Posterior: CYSTIC HYGROMA #2: Polyhydramnios? MACROGLOSSIA, MICROGNATHIA, FETAL GOITER #3: Family history? CLEFT LIP/PALATE, FETAL GOITER 15

REFERENCES Hagen-Ansert, Sandra L. Textbook of Diagnostic Sonography. Elsevier/Mosby, 2012. https: //www. youtube. com/watch? v=w. FY_KPFS 3 LA https: //sonoworld. com/The. Fetus/Home. aspx https: //www. ncbi. nlm. nih. gov/pmc/articles/PMC 4881882/ https: //healthtalk. org/cleft-lip-and-palate/cleft-and-other-associated-conditionssyndromes