ABSTRACT
A case of a achondroplasia in a 6 month-old-boy was presented with a brief review of the literature. He was admitted with the chief complaints of frequent respiratory infections, and stunted growth. This baby showed stunted growth, short arms and legs, prominent forehead, flatening of the bridge of the nose, and moderate degree of kyphosis. All laboratory datas were nomal. X-ray showed the thickness of the bones and their irregular epiphyseal ends. The pelvis squared, with flat acetabula and distally decreasing interpedunculate distance of the lumbar vertebrae. 14 month follow up study makes it possible to diagnosis as achodroplsia.
Subject(s)
Acetabulum , Achondroplasia , Arm , Diagnosis , Follow-Up Studies , Forehead , Kyphosis , Leg , Lumbar Vertebrae , Nose , Pelvis , Respiratory Tract InfectionsABSTRACT
Biliary atresia is a surgical disease of infancy with a very poor prognosis usually attributed to the rarity of surgically correctable case. This paper presents a case of incorrectable type of biliary atresia 50 days old Direan female infant who were subjected to the Modified Kasai Operation She had shown good bile excretion after surgery but developed recurrent fever, severe hypocalcemia and roentgenographically prover rickets during the follow up periods. She died 7 months after the operation.
Subject(s)
Female , Humans , Infant , Bile , Biliary Atresia , Fever , Follow-Up Studies , Hypocalcemia , Prognosis , RicketsABSTRACT
The Cornelia de Lange syndrome is characterized by severe growth and mental retardations and a cluster of minor malformations, the facial appearance being most characteristic. In the present paper, we shall report I case of this syndrome in Korean male infant and the variability of de Lange syndrome is discussed. The bady showed hirsutism, low forehead coved with lanugo-like hair, bushy eyebrows that meet in the midline, long curely eyelashes as well as low pitched, growling cry and skeletal abnormalities of hand bones. There is no positive family history and the karyotype was normal. Although the de Lange syndrome has received more interest there is no agreement as to the possible cause.
Subject(s)
Humans , Infant , Male , De Lange Syndrome , Eyebrows , Eyelashes , Forehead , Hair , Hand Bones , Hirsutism , KaryotypeABSTRACT
Two case of a rare from of congenital ichthyosis in infants born to the same parents are presented. Typical features revealed of parchment like skin, ectropion of upper eyelids, and fixed semiflexion attitude of the upper limb. The skin lesion were followed by desquamation and appearance of normal looking skin from the the second day of life to a month. Diagnosis of collodion baby was established by clinical features, histopathological and laboratory studies. A brief feview of literatures were presented.