Patient selection: Pierre Robin sequence
Parameters:
(1) other features of a named hereditary disorder
(2) other congenital anomalies
Part of a Hereditary Disorder
|
Presence of Other Congenital Anomalies
|
Designation
|
no
|
no
|
isolated
|
yes
|
NA
|
syndromic
|
no
|
yes
|
unique (variable)
|
Hereditary syndromes that may show the Pierre Robin sequence include:
(1) Trisomy 18
(2) Stickler symdrome
(3) Treacher Collins syndrome
(4) TARP syndrome
(5) Nager syndrome
(6) velocardiofacial syndrome
(7) Catel-Manzke syndrome
(8) cerebrocostomandibular syndrome
(9) Carey-Fineman-Zier syndrome
(10) Miller syndrome
(11) Hermansky-Pudlak syndrome 10
(12) osteopathia stratia with cranial sclerosis
(13) otosponylomegaepiphyseal dysplasia
(14) mandibulofacial dysostosis
plus others
These will typically have a gene mutation that can be identified.