Skip to main content

Table 1 Patient phenotypes.

From: Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

 

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

  1. Clinical features of the eight patients described in the text [19, 2730]
  2. * 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.
  3. ** 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.
  4. NF2 neurofibromatosis 2, MR mental retardation.