3: Neonatology - Dysmorphic Syndromes Flashcards
Define dysmorphic features
physical features, not found in someone of the same-age or ethnic background
What are dysmorphic facial features of Down’s syndrome
- Upslanting palpebral fishes
- Brushfield spots
- Saddle nose
- Round low-set ears -
- Small mouth
- High-arch palate
What are brush field spots
Grey discolouration of the iris
What cardiac defect is present in DS
AVSD (40%)
VSD (30%)
What digital defects are present in DS
Sandle gap
Single transverse palmar crease
What is a sandal gap
Large gap between first and second-toe
What are four dysmorphic features of Edward’s syndrome
- Micrognathia
- Prominent occiput
- Rockerbottom feet
- Low-set ears
What is micrognathia
Small jaw
What is micrgnathia associated with
Edward’s syndrome
What are 4 features of Patau’s
- Cleft lip
- Microcephaly
- Holoprosencephaly
- Micropthalmia
- Polydactyly
What is the stereotypical deformity in pataus
Microcephaly and holoprosencephaly
What is prader-willi
15q11 deletion in males
What eye shape is present in prader-willi
Almond-shape
What are other features of prader-willi
- Hypotonia
- Short-stature
- Cryptochidism
What is anglemann’s syndrome
15q11 deletion in females
What is a identifiable feature of anglemann’s syndrome
Happy demeanour with frequent laughing
What is william’s syndrome
Deletion of chromosome 7
what is the personality in William’s syndrome
Cognitive abnormalities - excessively comfortable around strangers
what are the dysmorphic features in Williams syndrome
Elfin appearance:
- Mid-facial hypoplasia
- Short palpable fissures
what is DiGeorge syndrome
22q11 deletion syndrome
what are 5 dysmorphic features of DiGeorge syndrome
- Short philtrum
- Fish-shaped mouth
- Micrgnathia
- Cleft palate
- Low set ears with notched pinna
what condition has a fish-shaped mouth
DiGeorge’s syndrome
how does foetal alcohol syndrome present
- Hypoplastic upper lip
- Smooth philtrum
- Microcephaly
- Cardiac defects
- Learning difficulties
what are NTD
Failure neural tube to close
what causes NTD
Folate deficiency
Chromosomal anomalies
What are the two types of NTD at the caudal end
- Spina bifida occulta
- Spina bifida cystica
Define spina bifida occulta
- Vertebrae fail to close
- Spinal cord, meninges and overlying skin remain intact
How does spina bifida occult present clinically
Asymptomatic. Dimple may appear over defect - as dip in the fat
What is spina bifida cystica
- Complete failure vertebrae to fuse
- Meninges and spinal cord protrude through the gap
How will spina bifida cystica present
Symptoms spinal cord dysfunction including motor and sensory loss
What is anencephaly
absent skull and brain
What is acranim
absent skull
how are NTD prevented
- Folic acid (400mcg) from birth until 12W
what are 5 indications for 5mg Folic acid
- Anti-epileptics
- Diabetics
- Child with NTD
- Either parent with NTD
- BMI >30
- Coeliac disease
If baby born with NTD, how are they managed
- C-section
- Prophylactic broad-spectrum antibiotics
- Closure at 72h and VP shunt
What proportion of cleft lips and cleft palates occur together
45%
What proportion of patients have an isolated cleft palate
40%
What proportion of patients have an isolated cleft lip
15%
Define cleft lip
Seen as a unilateral or bilateral defect either side midline of the upper-lip
What processes fail to fuse in cleft lip
Failure of frontonasal and maxillary processes to fuse
What is a cleft palate
Fissure in midline palate
What causes cleft palate
Failure palatine and nasal septum to fuse
What structures fail to fuse in cleft palate
Palatine and nasal septum
What 3 congenital defects are associated with cleft palate/lip
Edwards
Patau’s
Pierre-Robin sequence
What is Pierre Robin Sequence
Cleft-palate
Micrgnathia
Posterior displacement tongue
What else may cause cleft palate and lip
Maternal anti-epleptics
Alcohol
Methotrexate
What conservative measures are indicated for cleft palate
Early feeding advice
Orthondontic prosthesis
What is cheiloplasty
Repair cleft lip
What is palatoplasty
Repair cleft palate
What does cleft-palate increase risk of
Otitis media
