Table 1

Phenotype of published compared with current patients

FeaturesReported in Dubowitz syndrome %1455-3-21455-3-31455-3-4
Pregnancy/neonatal
 IUGR692.200 kg (<5%)2.900 kg (5%)2.900 kg (5%)
 Oligohydramnios2++
 Respiratory problems15
 Feeding difficulties/GER22
 Frequent infections32
 Growth retardation (PN)86+++
 Developmental/mental delay72+++
 Speech delay67+++
Craniofacial
 Microcephaly79+++
 Blepharophimosis43+++
 Ptosis38
 Upward palpebral fissures11
 Telecanthus25+++
 Hypertelorism19+++
 Broad/depressed nasal bridge22High bridge++
 Anteverted nares
 Low-set/dysplastic ears25
 Preauricular pits
 Cleft palate8
 Micrognathia57+
 Tooth problems29+++
 Small mouthRare
 Mask like/immobile face+
 Smooth philtrum+++
 Downturning upper lip/absent cupid bow++++
Neurological
 Abnormal brain image3
 Axial hypotonia40+++
 Ocular impairment22
 Hearing impairment
Cutaneous
 Sparse hair/thin eyebrows41++
 Eczema42+
 Thin skin
Cardiac9
Gastrointestinal
 Gastrectasia
 Constipation9+
 Distension of gall-bladder
Skeletal/limb
 Long thumbsRare
 Clinodactyly of 5th fingers34
 Contractures
 Urogenital abnormalities41
 Thyroid abnormalitiesRare+
 OtherHA, HDSelf stimulation, convulsionsSelf stimulationSelf stimulation
 InheritanceARARARAR
  • AR, autosomal recessive; HA, hyperactivity; HD, haematological disturbance; IUGR, intrauterine growth retardation, GER: gastroesophageal reflux, PN: perinatal.