Wolf-Hirschhorn syndrome?!
Question: Identify the disorder and explain how it is expressed in a person and inherited.
If you were the parent of a child with a disorder, with which question would be most concerned?
Discuss any personal experiences or news articles related to the disorder.
Answers: Identify the disorder and explain how it is expressed in a person and inherited.
If you were the parent of a child with a disorder, with which question would be most concerned?
Discuss any personal experiences or news articles related to the disorder.
Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. Deletion of the terminal band (4p16.3) is essential for full expression of the phenotype
INHERITANCE
new mutation in paternal genes....87%
13% are due to unbalanced product of a parental chromosomal rearrangement, usually of a reciprocal translocation.
Medical care is supportive. The underlying disorder has no known treatment.
* Seizure control
* Multidisciplinary team approach
* Genetic counseling
Prognosis
* Wolf-Hirschhorn disease is associated with frequent stillbirths, perinatal deaths, and death within the first year of life.
* If patients survive beyond infancy, their development progresses slowly but constantly.
well is this some assignment u got?
* Pregnancy history
*
o Intrauterine growth retardation
o Decreased fetal movements
o Hypotrophic placenta
* Developmental history
*
o Delayed psychomotor development
o Difficulty in ambulation, often with ataxic gait
o Seizures (50%)
* Behavior history
*
o Stereotypes (holding the hands in front of the face, hand-washing or flapping, patting self on chest, rocking, head-shaking, stretching of legs)
o Absence of speech
o Babbling or guttural sounds, occasionally modulated in a communicative way
o Comprehension limited to simple orders or to a specific context
o Affect disorder that improves over time
o Walking with or without support
o Self-feeding
o Helps in dressing and undressing self
o Improved abilities and adaptation to new situations
o Communicative abilities and verbal comprehension with extension of the gesture repertoire and decreased occurrence of withdrawal and anxiety behaviors
Physical
* Growth - Severe growth retardation (short stature)
* CNS - Profound mental retardation, microcephaly, seizures, congenital hypotonia with muscle hypotrophy particularly of the lower limbs, hypoplasia of cerebellum, cavum or absent septum pellucidum, agenesis of corpus callosum, hypoplasia or absence of olfactory bulbs and tracts, microgyria, migration defects, hydrocephalus
* Skull - Frontal bossing, high frontal hairline, hemangioma over forehead or glabella, scalp defect with or without underlying bony defect
* Face - Characteristic dysmorphic features including prominent glabella, hypertelorism, broad beaked nose, and frontal bossing, collectively described as "Greek warrior helmet" facies
* Eyes - Hypertelorism, down-slanting palpebral fissures, epicanthal folds, strabismus, coloboma, proptosis due to hypoplasia of orbital ridges, ectopic pupils, exotropia, ptosis, microphthalmia, megalocornea, sclerocornea, cataracts, hypoplastic anterior chamber and ciliary body of iris, persistence of lenticular membrane, hypoplastic retina with formation of rosettes, cup-shaped optic discs, congenital nystagmus, Rieger anomaly
* Nose - Broad or beaked nose, nasolacrimal duct stenosis or atresia
* Mouth - Short upper lip, short philtrum, cleft lip or palate, bifid uvula, carplike mouth, micrognathia, retrognathia
* Teeth - Hypodontia
* Ears - Low-set ears; large, floppy, or misshapen ears; microtia; preauricular dimples; chronic otitis media with effusion; sensorineural hearing loss
* Cardiovascular - Atrial septal defect, ventricular septal defect, persistent left superior vena cava, valve abnormalities, complex cardiac defects
* Pulmonary - Bilateral bilobed or trilobed lungs, lung hypoplasia secondary to diaphragmatic hernia
* GI - Diastasis recti, umbilical or inguinal hernias, accessory spleens, absent gallbladder, diaphragmatic hernia, intestinal malrotation
* Genitourinary - Hypoplastic kidneys, cystic dysplastic kidneys, unilateral renal agenesis, hydronephrosis, exstrophy of bladder, hypoplastic external genitalia, cryptorchidism and hypospadias in males, hypoplastic m