Q 1- 2:
A 5-week-old baby girl was seen in clinic, with concerns about short limbs. Born at term by spontaneous vaginal planned home delivery, following an uneventful pregnancy with normal antenatal scans. Bottle feeding well and thriving. One of six children with three half siblings and three full siblings. Family history includes a paternal aunt with Apert syndrome. On examination, she is alert and responsive with social smiles. She has a relatively large head and short limbs, close to the body with resultant extra skin creases. Muscle
tone is slightly reduced. Facial features showed downward slant of the eyes and flat nasal bridge. Left-sided preauricular tag. Short and broad hands. Normal spine and joints. Systemic examination is otherwise normal.
( Q 1) What is the most likely diagnosis given the examination findings ?
A- Familial short stature
B- Apert syndrome
C- Down’s syndrome
D- Osteogenesis imperfecta
E- Achondroplasia
(Q 2) What is the genetic inheritance pattern?
A- Trisomy
B- Autosomal dominant
C- Autosomal recessive
D- x-linked
E- Multivariate
Answer
1 : E
2: B
Achondroplasia is an autosomal dominant disorder, most cases arise as the result of a new mutation that can be associated with increasing paternal age. It can be suspected on antenatal ultrasound scan, with polyhydramnios or a large foetal head. Postnatally, characteristic physical findings include disproportionate head circumference to length or weight, short limbs e most markedly the proximal
limbs, short and broad hands, and a saddle-shaped nasal bridge. There is currently no treatment available.
Co-morbidities include hydrocephalus and spinal stenosis.
Adult height potential is markedly reduced and trials are ongoing regarding the use of growth hormone. Intelligence is not impaired.
Familial short stature is a diagnosis of exclusion after a period of observation. It can be predicted using parental heights; and ascertaining normal growth velocity with bone age equivalent to chronological age.
Apert syndrome is an autosomal dominant congenital acrocephalosyndactyly with anomalies of the skull, face, hands and feet. Typical hand deformities distinguish it from other acrocephalosyndactyly syndromes.
Down’s syndrome is caused by trisomy 21 and is associated with well-recognized dysmorphic features.
Osteogenesis imperfecta, OI, is mainly an autosomal dominant disorder with autosomal recessive variants.
There are eight types of OI, each with their own pattern of symptoms.
Answer
1 : E
2: B
Achondroplasia is an autosomal dominant disorder, most cases arise as the result of a new mutation that can be associated with increasing paternal age. It can be suspected on antenatal ultrasound scan, with polyhydramnios or a large foetal head. Postnatally, characteristic physical findings include disproportionate head circumference to length or weight, short limbs e most markedly the proximal
limbs, short and broad hands, and a saddle-shaped nasal bridge. There is currently no treatment available.
Co-morbidities include hydrocephalus and spinal stenosis.
Adult height potential is markedly reduced and trials are ongoing regarding the use of growth hormone. Intelligence is not impaired.
Familial short stature is a diagnosis of exclusion after a period of observation. It can be predicted using parental heights; and ascertaining normal growth velocity with bone age equivalent to chronological age.
Apert syndrome is an autosomal dominant congenital acrocephalosyndactyly with anomalies of the skull, face, hands and feet. Typical hand deformities distinguish it from other acrocephalosyndactyly syndromes.
Down’s syndrome is caused by trisomy 21 and is associated with well-recognized dysmorphic features.
Osteogenesis imperfecta, OI, is mainly an autosomal dominant disorder with autosomal recessive variants.
There are eight types of OI, each with their own pattern of symptoms.
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