This indicidual has CATCH22 DiGeorge Syndrome, caused by failure in the development of the 3rd and 4th pharyngeal pouches (FA2020 p116). This is evidenced by the hypocalcemia (agenesis of parathyroids), facial deformities, and conotruncal abnormality (right sided aortic arch).
Big thing is being able to ensure you know it is pharyngeal POUCH not cleft or arch. Pharyngeal arch derivatives are on FA2020 p620. Pharyngeal pouch derivatives are p621. And pharyngeal cleft derivatives are p619. (Aortic arch derivatives are p619 as well, if you want to complete the circle)
Treacher-Collins is error in 1st and 2nd pharyngeal arch derivatives which can present with craniofacial abnormalities, zygomatic and mandibular hypoplasia, and hearing loss. Pierre Robin is similar and presents with micrognathia, glossoptosis, cleft palate, and airway obstruction. Neither of these would present with hypocalcemia.
cheesetouchArch vs pouch (my thoughts): Arches help build a structure and direct development of cartilage, muscles, nerves. Pouches are cavities or minor organs (middle ear cavity, eustachian tube, thymus, parathyroids).+9
submitted by โcassdawg(1780)
This indicidual has CATCH22 DiGeorge Syndrome, caused by failure in the development of the 3rd and 4th pharyngeal pouches (FA2020 p116). This is evidenced by the hypocalcemia (agenesis of parathyroids), facial deformities, and conotruncal abnormality (right sided aortic arch).
Big thing is being able to ensure you know it is pharyngeal POUCH not cleft or arch. Pharyngeal arch derivatives are on FA2020 p620. Pharyngeal pouch derivatives are p621. And pharyngeal cleft derivatives are p619. (Aortic arch derivatives are p619 as well, if you want to complete the circle)
Treacher-Collins is error in 1st and 2nd pharyngeal arch derivatives which can present with craniofacial abnormalities, zygomatic and mandibular hypoplasia, and hearing loss. Pierre Robin is similar and presents with micrognathia, glossoptosis, cleft palate, and airway obstruction. Neither of these would present with hypocalcemia.