NB-2 Flashcards by Reagan Mahoney

Q

What is the diagnosis and cause?

A

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

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Q

What is the diagnosis and issue?

A

Holoprosencephaly
1. No cleavage of prosencephalon
2. Small undivided forebrain and a large single fused ventricle

D/t SHH -very severe NTD

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Q

What is the diagnosis?

A

Microcephaly
-Underdeveloped brain leads to severe neuro defects.
-NORMAL sized face
Causes: virus (zika), ionizing radiation, FAS

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Q

What is Craniosynostosis?

A

One or more of the fibrous sutures in an infant skull fuses prematurely

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Q

Diagnosis and cause?

A

Trigonocephaly

Premature closure of the frontal (metopic) suture

Causes developmental delays, behavior problems, and vision defects

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Q

Diagnosis and cause?

A

Scaphocephaly

Premature closure of the sagittal suture

Prominent frontal/occipital regions

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Q

Diagnosis and cause?

A

Brachycephaly

Premature closure of coronal suture

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Q

Diagnosis and cause?

A

Plagiocephaly

Assymetrical premature closure of sutures

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Q

What is Cranium Bifidum?

A

Defect in the formation of cranial vault usually in the midline

Leads to encephalocele or hernation of intracranial contents

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Q

Cranium Bifidum with Meningocoele cause?

A

Swelling contains meninges & CSF

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Q

Diagnosis and cause?

A

Cranium bifida with Meningoencephalocoele
Swelling contains meninges, CSF & brain

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Q

Diagnosis and cause?

A

Cranium Bifidum with Meningohydroencephalocoele

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Q

Diagnosis and cause?

A

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)

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Q

Diagnosis and cause?

A

Unilateral Cleft Upper Lip

Failure of fusion of the L maxillary prominence with the fused medial nasal prominences (intermaxillary segment)

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Q

Diagnosis and cause?

A

Bilateral Cleft Upper Lip

Failure of both maxillary prominences to fuse with the intermaxillary segment

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Q

Diagnosis and cause?

A

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

Q

Diagnosis and cause?

A

Median Cleft Lower Lip

Failure of fusion of the mesenchyme of the mandibular prominences

Q

Diagnosis and cause?

A

Anterior Cleft Palate

Failure of the** fused lateral palatine processes** (secondary palate) to meet with the primary palate

Q

Diagnosis and cause?

A

Posterior Cleft Palate

Failure of the lateral palatine processes to meet and fuse with eachother and the nasal septum

Q

Diagnosis and cause?

A

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

Q

Diagnosis?

A

Unilateral Cleft Lip and Palate

Q

Diagnosis and cause?

A

Oblique Facial Cleft

Failure of the maxillary prominence to fuse with lateral nasal prominence

Nasolacrimal duct is visible

Q

Diagnosis and cause?

A

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

Q

Diagnosis and cause?

A

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