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Table 1 Phenotypic Features of 3-M syndrome in three affected foetuses.

From: Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

CATEGORY SUBCATEGORY FEATURES 3a 4b 5b
Growth Height Short stature + + +
  Weight Low birth weight NA NA NA
  Other Intrauterine growth retardation + + +
   Postnatal growth retardation NA NA NA
Head and Neck Head Frontal bossing ND + +
   Increased relative head circumference ND + +
  Face Triangular face ND + +
   Pointed, prominent chin ND + +
   Hypoplastic midface ND + +
   Long philtrum ND ND +
  Eyes Full eyebrows NA NA NA
  Nose Fleshy, upturned nose ND ND ND
   Low nasal bridge ND + +
   Depressed nasal root ND ND ND
   Anteverted nares ND ND +
  Mouth Full lips NA NA NA
  Neck Short neck NA NA NA
Respiratory   Neonatal respiratory distress NA NA NA
Chest External Features Short, wide, flat thorax NA NA NA
   Pectus excavatum NA NA NA
  Ribs, Sternum, Clavicles and Scapulae High, square shoulders NA NA NA
   Rib hypoplasia NA NA NA
   Winged scapulae NA NA NA
Abdomen External Features Enlarged abdomen NA NA NA
Genitourinary External Genitalia (Male) Hypospadias NA NA NA
   Small testes NA NA NA
Skeletal General Delayed bone age + + +
   Joint hypermobility NA NA NA
   Joint dislocation NA NA NA
  Skull Dolichocephaly ND ND ND
  Spine Tall vertebral bodies ND ND ND
   Hyperlordosis NA NA NA
  Pelvis Hip dislocation NA NA NA
   Small pelvis NA NA NA
  Limbs Long, slender tubular bones NA + +
  Hands Short fifth fingers NA NA NA
   Clinodactyly NA NA NA
  Feet Prominent heels NA + +
   Pes planus NA NA NA
Skin, Nails, Hair Hair Full eyebrows NA NA NA
Neurologic Central Nervous System Normal intelligence NA NA NA
   Spina bifida occulta NA NA NA
  1. aultrasound and radiograph; bformal autopsy performed; NA (Not applicable); ND (Not done or tested)