Table 1.
Family |
Family A |
Family B |
Family C |
Family D |
Family E |
Family F |
||
---|---|---|---|---|---|---|---|---|
Individual | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 |
Sex | F | M | M | F | F | M | F | M |
Ethnicity | Hutterite-D | Hutterite-D | Hutterite-S | Hutterite-S | Hutterite-S | Hutterite-S | Egyptian | Egyptian |
Current age (years) | 18 | 23 | 10 | 6 | 6 | 9 | 9 | 3 |
Age at last exam (years) | 13 | 17 | 8 | 5 | 5 | 9 | 8 | 2 |
Growth | ||||||||
Birth length | 50th–75th | 5th–10th | 5th–10th | <5th | <5th | ND | normala | normala |
Birth weight | 50th | 50th | 25th–50th | <5th | <5th | 50th–75th | normala | normala |
Birth OFC | 90th | 50th | normala | <5th | <5th | >95th | normala | normala |
Height | −3 to −4 SD | −3 to −4 SD | −3 SD | 5th | 5th | <5th | 5th | 5th |
Weight | −4 SD | −4 SD | −3 SD | 10th | 10th | 25th–50th | 25th | 5th |
OFC | 50th | 50th | 50th | 25th–50th | 25th–50th | 95th | 50th | 50th |
Development | ||||||||
Head Control (years) | 2 | 4 | 2 | 2 | 2 | 2 | no | no |
Sit (years) | 7 | with support | 3 | with support | with support | with support | no | no |
Walk (years) | no | no | no | no | assisted | no | assisted | no |
Intellectual disability | profound | profound | severe | profound | profound | profound | severe | severe |
Clinical Features | ||||||||
Hypotonia | profound | profound | severe | severe | severe | severe | severe | severe |
Strabismus | yes | yes | yes | yes | yes | no | yes | yes |
Seizures | no | no | no | no | no | yes | myoclonic | no |
Other | recurrent infections, joint hypermobility | recurrent infections, joint hypermobility | constipation | recurrent infections | recurrent infections | recurrent infections | hyperreflexia | hyperreflexia |
Imaging | ||||||||
Skeletal | osteopenia | osteopenia, flat and broad long bone epiphyses | normal skeletal survey at 16 months | ND | ND | ND | ND | ND |
MRI | severe atrophy of the cerebellar vermis and hemispheres | severe atrophy of the cerebellar vermis and hemispheres | severe atrophy of the cerebellar vermis and hemispheres | severe atrophy of the cerebellar vermis and hemispheres | ND | progressive atrophy of the cerebellar vermis and hemispheres | severe atrophy of the cerebellar vermis and hemispheres | mild atrophy of the cerebellar vermis and hemispheres; cerebral atrophy, particularly of the frontal lobes |
MRS | ND | ND | ND | normal | ND | elevated lactate peak | ND | ND |
Abbreviations are as follows: Hutterite-D, Hutterite Dariusleut; Hutterite-S, Huterite-Schmiedeleut; ND, no data.
Reported as normal.