(Plantar lipomatosis-facial dysmorphism-developmental delay syndrome)
Very rare. Caused by autosomal dominant transmission of a nonsense mutation of the TBL1XR1 gene (3q26.32). Association of multiple birth defects:
- axial hypotonia after birth,
- persistent feeding difficulties
- moderate to severe delay in overall development,
- convulsions, especially absence episodes
- persistence of the fetal aspect of the finger pulpits as well as the plantar pads at the anterior-median level of the heel, as well as the deep palmar and plantar creases. Fat pads may become less prominent and disappear over time.
- facial dysmorphism: wide face with a high forehead, high implantation of the hair, narrow palpebral slits with a crescent moon shape when the patient smiles, a wide nasal bridge and anteverted nostrils, mild hypoplasia of the midface, a long and smooth philtrum, a fine vermilion at the level of the upper lip, small, widely spaced teeth and flat occiput or microcephaly/brachycephaly
Anesthetic implications:
developmental delay, epilepsy
References :
- Kahlert AK , Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A.
Pierpont syndrome: report of a new patient.
Clin Dysmorphol 2017 ; 26:205-8.
- Tesarovaa M, Baxovab A, Hansikovaa H, Lambertc L,Vondrackovaa A, Leiskac A, Zemana J.
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1gene.
Clinical Dysmorphology 2022 ; 31:145-8
Updated: November 2023