Patients of Ellis-van Creveld Syndrome
- Patient Serial No - 1
- Patient Serial No - 1
Age:
0
Sex:
male
Location:
sylhet
Clinical Features:
Patient was febrile with a respiratory rate of 64/ minute and heart rate of 160/minute, and had gross motor delay . He had a height of 54 cm and weight of 4.5 kg, his upper segment was 35 cm and lower segment was 19 cm. The patient exhibited no signs of cyanosis. Multiple skeletal aberrations were present including short broad hands and feet, distal shortening of upper and lower limbs, post axial polydactyly, dystrophic nails in hands and feet, narrow thorax, high arched palate, and obliterated sulcus between upper lip and gum. The patient had neutrophilic leukocytes with microcytic hypochromic anaemia. X-rays showed narrow chest, short ribs, cardiomegaly, small, square iliac chest, spikes of bone in the triradiate cartilage, 6th metacarpal and phalanx on ulnar border of hands, disproportionate tibial segments which were shorter than femoral segments and expanded and abnormally shaped metaphysis of long bones. X-ray also showed patchy opacities on lungs.
treatement and management:
The patient was treated for bronchopneumonia and referred to a pediatric cardiologist for management of congenital heart disease.
Remarks:
An eight month old male was admitted in Jalalabad Ragib Rabeya Medical College Hospital. The child had fever, cough and respiratory distress for 10 days. He was the third issue of consanguineous marriage, with the first issue being stillborn and the second issue have skeletal deformity and dying during perinatal period.
Age:
0
Sex:
male
Location:
sylhet
Clinical Features:
Patient was febrile with a respiratory rate of 64/ minute and heart rate of 160/minute, and had gross motor delay . He had a height of 54 cm and weight of 4.5 kg, his upper segment was 35 cm and lower segment was 19 cm. The patient exhibited no signs of cyanosis. Multiple skeletal aberrations were present including short broad hands and feet, distal shortening of upper and lower limbs, post axial polydactyly, dystrophic nails in hands and feet, narrow thorax, high arched palate, and obliterated sulcus between upper lip and gum. The patient had neutrophilic leukocytes with microcytic hypochromic anaemia. X-rays showed narrow chest, short ribs, cardiomegaly, small, square iliac chest, spikes of bone in the triradiate cartilage, 6th metacarpal and phalanx on ulnar border of hands, disproportionate tibial segments which were shorter than femoral segments and expanded and abnormally shaped metaphysis of long bones. X-ray also showed patchy opacities on lungs.
treatement and management:
The patient was treated for bronchopneumonia and referred to a pediatric cardiologist for management of congenital heart disease.
Remarks:
An eight month old male was admitted in Jalalabad Ragib Rabeya Medical College Hospital. The child had fever, cough and respiratory distress for 10 days. He was the third issue of consanguineous marriage, with the first issue being stillborn and the second issue have skeletal deformity and dying during perinatal period.