Patients of Achondroplasia
- Patient Serial No - 1
- Patient Serial No - 2
Age:
25
Sex:
female
Location:
rajshahi
Nucleotide Change:
C->G
Amino Acid Change:
Gly->Ala
Second Mutation:
Not Available
Clinical Features:
The patient appeared to be well-adjusted, healthy, and intelligent. General physical examination showed short stature, with normal trunk length and rhizomelic shortening of the arms and legs. Lumbar lordosis; prominent buttocks; and short, stubby fingers with trident hand configuration were also evident. Anthropometry (at age 16 years) revealed a height of 124 cm (midparental target height 143.6 cm by Tanner's formula), the weight of 42 kg, mesomelic dwarfism with upper limb to lower limb ratio of >1, and an arm span of 100 cm (expected to be 124 cm). The head circumference was 58 cm. Her vital signs were within normal limits. Systemic examination did not reveal any other abnormality. Extraoral examination revealed facial features such as brachycephaly, midfacial hypoplasia, flat nasal bridge, frontal bossing, and competent lips. A concave facial profile was also noticed; however, the mandible appeared normal and the chin was not prominent
Biochemical Data:
Not Available
Remarks:
The patient and her parents were provided with genetic counseling and the generally good prognosis of the condition was emphasized. The patient was then referred to Department of Prosthodontics for further treatment.
Age:
None
Sex:
female
Location:
rajshahi