NB-2 Flashcards
What is the diagnosis and cause?
Moroencephaly/Anencephaly
Failure of the cranial neuropore to fuse in Week 4
* Rudimentary brain step often present
* Elevated alpha fetoprotein
* Polyhydramnios-d/t fetus not swallowing amniotic fluid
What is the diagnosis and issue?
Holoprosencephaly
1. No cleavage of prosencephalon
2. Small undivided forebrain and a large single fused ventricle
D/t SHH -very severe NTD
What is the diagnosis?
Microcephaly
-Underdeveloped brain leads to severe neuro defects.
-NORMAL sized face
Causes: virus (zika), ionizing radiation, FAS
What is Craniosynostosis?
One or more of the fibrous sutures in an infant skull fuses prematurely
Diagnosis and cause?
Trigonocephaly
Premature closure of the frontal (metopic) suture
Causes developmental delays, behavior problems, and vision defects
Diagnosis and cause?
Scaphocephaly
Premature closure of the sagittal suture
Prominent frontal/occipital regions
Diagnosis and cause?
Brachycephaly
Premature closure of coronal suture
Diagnosis and cause?
Plagiocephaly
Assymetrical premature closure of sutures
What is Cranium Bifidum?
Defect in the formation of cranial vault usually in the midline
Leads to encephalocele or hernation of intracranial contents
Cranium Bifidum with Meningocoele cause?
Swelling contains meninges & CSF
Diagnosis and cause?
Cranium bifida with Meningoencephalocoele
Swelling contains meninges, CSF & brain
Diagnosis and cause?
Cranium Bifidum with Meningohydroencephalocoele
Diagnosis and cause?
Arnold-Chiari Malformation
Inferior displacement of vermis and medulla through the foramen magnum into the vertebral canal
-Associated w/ non-com hydrocephalus
-CN 9,10, 12 may be stretched (loss gag reflex etc)
Diagnosis and cause?
Unilateral Cleft Upper Lip
Failure of fusion of the L maxillary prominence with the fused medial nasal prominences (intermaxillary segment)
Diagnosis and cause?
Bilateral Cleft Upper Lip
Failure of both maxillary prominences to fuse with the intermaxillary segment
Diagnosis and cause?
Median Cleft Upper Lip
Failure of fusion of the two medial nasal prominences to form the intermaxillary segment
Rare-often associated with holoprosencephaly, single incisor, single eye
Diagnosis and cause?
Median Cleft Lower Lip
Failure of fusion of the mesenchyme of the mandibular prominences
Diagnosis and cause?
Anterior Cleft Palate
Failure of the** fused lateral palatine processes** (secondary palate) to meet with the primary palate
Diagnosis and cause?
Posterior Cleft Palate
Failure of the lateral palatine processes to meet and fuse with eachother and the nasal septum
Diagnosis and cause?
Anterior AND Posterior Cleft Palate
Failure of the lateral palatine processes to meet and fuse with the primary palate AND with eachother and the nasal septum
Diagnosis?
Unilateral Cleft Lip and Palate
Diagnosis and cause?
Oblique Facial Cleft
Failure of the maxillary prominence to fuse with lateral nasal prominence
Nasolacrimal duct is visible
Diagnosis and cause?
First Arch Syndrome-Treacher Collins
Failure of migration of neural crest cells
1. Micrognathia (underdeveloped jaw)
2. Underdeveloped zygoma
3. Conductive hearing loss
4. Malformed pinna
5. Dropping lateral part of lower eyelid
Diagnosis and cause?
First Arch Syndrome-Pierre Robin Sequence
1) Micrognathia or retrognathia
2) Glossoptosis-big tongue blocks palatal shelves from coming together
3) Cleft palate-problems with feeding and breathing
What is a Cervical (Branchial) Sinus?
External: Failure of the 2nd pharyngeal groove and cervical sinus to obliterate
Internal: Opens internally into the tonsilar fossa near the palatopharyngeal arch
What is a cervical cyst?
Cystic swelling along anterior border of sternocleidomastoid
Persistence of cervical sinus and/ or 2nd pharnygeal groove
Diagnosis and cause?
Thyroglossal Duct Cyst
Cystic remnant of the thyroglossal duct- painless, progressively enlarging and is a moveable midline mass
Diagnosis?
Lateral Branchial Cyst
What does the anterior pituitary gland come from embryologically?
Hypophyseal diverticulum (Rathke’s Pouch) of stomodeum-upgrowth from ectodermal roof of primitive mouth
What does the Posterior Pituitary gland come from embryologically?
Neuropophyseal diverticulum-downgrowth from ectodermal floor of forebrain
