Craniofacial syndromes

From WikiLectures

Treacher-Collins syndrome (dysostosis mandibulofacialis)[edit | edit source]

Pierre-Robin syndrome[edit | edit source]

  • it is not hereditary
  • cleft palate, hypoplasia of the mandible, sunken tongue during retrognacy → difficulty breathing and swallowing → breathing control required from birth / nasal intubation / "floating plate" palatal plate / suturing the base of the tongue into the vestibule of the lower lip sec Douglas. Micrognathia is definitively solved by osteodistraction of the mandible.

Progressive hemifacial atrophy[edit | edit source]

  • slowly progressing atrophy of the soft tissues of 1 side of the face
  • affects skin, subcutaneous tissue, later also muscles and skeleton
  • starts around age 20
  • most likely caused by sympathetic damage → vasoconstriction, lipolysis, tissue atrophy
Klippel-Feilův syndrom

Klippel-Feil syndrome (brevicollis)[edit | edit source]

  • it is not hereditary
  • without mental disability
  • short neck with low-set hairline, deformity + fusion of C vertebrae, Pterygium colli, cleft palate, deformity of the auricles

Dysmorphia otofaciocervicalis[edit | edit source]

  • anomalies of the outer, middle and inner ear, hypoplasia of the maxillozygomatic complex, cervical fistula, hypoplasia of the neck muscles → decrease in the arm girdle + pseudopterygium

Dysmorphia palpebroorbitalis[edit | edit source]

  • Ptosis of the upper eyelids, hypoplasia of the upper + lower eyelids, phimosis of the orbital fissure, epicantha, flattening of the supraorbital landscape, confluent eyebrows

Dysmorphia craniocarpotarsalis ("whistling face" syndrome)[edit | edit source]

Defect of skull cap and amniotic strangulation[edit | edit source]

  • partial defect of hard and soft coverings of the top of the head + amniotic strangulation, possibly loss of fingers or entire limbs

Sedláček's syndrome[edit | edit source]

  • syndrome of developmental shortening of the palate
  • palatolalia, wide nasal root, narrow eye slits, narrowed nasal and auditory canal entrances, hypomimia, short upper lip, short hypoplastic pinnae, mental retardation, cleft palate and others

Links[edit | edit source]

Used literature[edit | edit source]

  • MĚŠŤÁK, Jan. Úvod do plastické chirurgie. 1. edition. Univerzita Karlova v Praze - Nakladatelství Karolinum, 2005. 125 pp. ISBN 80-246-1150-3.