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

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.

ISSN: 1471-2350