Table 1

Patient phenotypes.

Clinical features


Patient

NF2

Cleft palate or craniofacial dysmorphism

MR

Other described findings


PRS-NF2

Yes

Cleft palate Microcephaly

Yes

Micrognathia, hypertelorism, conductive hearing loss. Corpus callosum and cardiac evaluation were normal.


TC [29]

? *

Cleft palate

? **

Micrognathia, hypertelorism, absent corpus callosum, cardiac defects,


pX [28]

? *

Cleft palate

Yes

Mandibular hypoplasia, hypertelorism


p41 [27]

Yes

Facial dysmorphism

Yes

Cerebral paresis, pes cavus, peripheral facial paresis, cerebral movement disorder, cataracts


JP [19]

Yes

-

Yes

Seizure disorder


p12 [27]

Yes

-

Yes


999 [30]

-

Microcephaly

Yes

Speech delay


4110 [30]

-

Cleft palate

Yes

Auricular pits, cataracts, deafness, hypotonia, proptosis, short phalanges


Clinical features of the eight patients described in the text [19,27-30]

* Patients pX and TC were was only 10 months old and 2 years old, respectively, at the time of the report [28,29]. While their clinical description did not include features of NF2, as would be expected at their age, their deletions did encompass the NF2 gene.

** Patient TC was described as having walked at age 22 months, but there is insufficient information to determine other measures of developmental and/or intellectual delay.

NF2 neurofibromatosis 2, MR mental retardation.

Davidson et al. BMC Medical Genetics 2012 13:19   doi:10.1186/1471-2350-13-19

Open Data