Table 2.

Disorders to Consider in the Differential Diagnosis of BGS

Differential DisorderGene(s)MOIClinical Features of the Differential Disorder
Overlapping w/BGSDistinguishing from BGS
Fanconi anemia (FA)Various 1AR
AD
XL
  • Radial ray defects
  • Craniosynostosis in some
  • Cardiac malformation & hematologic anomalies often present
  • Chromosome breakage after incubation w/clastogens
Fetal valproate syndrome (OMIM 609442)NANA
  • Radial hypo-or aplasia
  • Craniosynostosis (metopic)
  • History of maternal use of valproate during pregnancy
  • Facial dysmorphia
  • Cleft palate
  • Neural tube defect
VACTERL (OMIM 192350)UnknownSporadicThumb hypo- or aplasia
  • Cranial nerves palsies
  • Cardiac malformation
  • Choanal atresia
  • Coloboma
  • Outer &/or inner ear abnormality
  • Orofacial cleft
SALL4-related disorders SALL4 ADRadial ray malformations
  • Shape of pinnae
  • Anorectal anomalies
Holt-Oram syndrome TBX5 ADUpper-extremity malformations may involve radial bones.
  • Cardiac malformation &/or conduction defect present
  • No craniosynostosis
Thrombocytopenia-absent radius (TAR) syndrome See footnote 2.See footnote 2.Shortening of upper limbs, sometimes severe
  • No craniosynostosis
  • Thumbs present in TAR
Saethre-Chotzen syndrome TWIST AD
  • Craniosynostosis
  • Occasional radial defects (radioulnar synostosis or hypoplastic radius)
  • Facial asymmetry
  • Small ears w/prominent crus
  • Brachydactyly
  • Partial 2-3 syndactyly of hand
Roberts syndrome ESCO2 AR
  • Radial aplasia/hypoplasia
  • Occasional craniosynostosis
  • Shortening of 4 limbs
  • Intellectual disability
CDAGS syndrome (OMIM 603116)UnknownAR
  • Craniosynostosis
  • Porokeratosis resembling poikiloderma
  • Clavicular hypoplasia
  • Hearing loss

CDAGS = craniosynostosis and clavicular hypoplasia; delayed fontanelle closure, cranial defects and deafness; anal anomalies; genitourinary malformations; and skin eruption [Mendoza-Londono et al 2005]

1.

The diagnosis of FA rests on the detection of chromosomal aberrations (breaks, rearrangements, radials, exchanges) in cells after culture with a DNA interstrand cross-linking agent such as diepoxybutane (DEB) or mitomycin C (MMC). Approximately 20 genes have been associated with FA.

2.

Previously thought to be autosomal recessive, the mode of inheritance of TAR syndrome is complex, with a microdeletion in 1q21.1 being necessary but not sufficient to determine the phenotype [Klopocki et al 2007].

From: Baller-Gerold Syndrome

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