Table 1

Clinical comparison of phenotypically abnormal patients with r(1) accessory chromosome

PatientABCDCase 1
This reportThis reportThis reportThis reportRef 11
SexMMMFM
Gestation3637429536
Growth
 Height (centile)50–7575–907510–25
 Lean build++
 Long limbs+
 BW (g)29552450371731502600
 (Centile)50–901010–5010–5010–50
 FTT++
CNS/development
 Developmental delay/IQ+/46–50+/67–77Language/ND+/ND
 Hypotonia+
Craniofacial
 HC (centile)2–50252–5050–98<2
 Plagiocephaly++
 Double scalp whorl++
 Protruding ears+++
 Ear creases+
 Long face+
 Long nose+
 Palpebral fissures
  Long++
  Upward slanting++
 Hypocanthus+
 Telecanthus+
 Epicanthus+
 Hypertelorism+
 Synophrys+
 Strabismus+
 High palate+++
 Trismus+
 Smooth philtrum+
 Protruding tongue+ (infancy only)
Thorax/abdomen
 Pectus excavatum++
 Nipples
  Widely spaced+
  Hypoplastic+
  Low set+
 Hepatomegaly+
 Chronic diarrhoea/steatorrhoea+
 Congenital heart disease+ small VSD
Musculoskeletal
 Kyphoscoliosis++ kyphosis
 Clinodactyly V+
 Camptodactyly V
Skin
 Elbow dimples+
 Haemangioma+ neck, back
Other
 Chronic serous otitis media+