Table 3

Features in patients from the current series and those reported by Deal et al

ReferenceCurrent seriesDeal et al
Pedigree123451234
Affected cases3-151 2 (1, 2)1 (3)1 (4)1 (5)1 (6)3212
Ethnic originPakistanPakistanPakistanPakistanPakistanPakistanPakistanPakistanOman
Consanguineous++++++++
Arthrogryposis+++++++++
Neurogenic muscle change+++++
Fanconi syndrome++++++++
Nephrogenic diabetes insipidus 3-150 3-150 3-150 3-150 + 3-150 3-150 3-150
Cholestasis+++++++++
Lax skin+++
Ichthyosis+++++
Sepsis/fevers+++++++++
Diarrhoea+++++++++
Failure to thrive+++++++++
Abnormal platelets++++++
  • 3-150 Episodes of hypernatraemic dehydration but nephrogenic diabetes insipidus not formally shown.

  • 3-151 Numbers in parentheses refer to case numbers in current series.

  • +, present; −, absent; blank, not mentioned.