ABSTRACT
A 17-month-old male infant was referred to us with a unilateral sirenoid malformation in 1970. Besides urogenital and lumbosacral vertebral defects, the right knee was flexed 160 degrees, and the hip externally rotated and abducted. The thigh and calf were connected by a soft tissue bridge with the heel fixed to the ischial region. Arteriography showed that the foot and lower leg were supplied by the profunda femoris artery through the soft tissue bridge. The lower leg had only a very small supply from the popliteal artery. Therefore, an amputation by disarticulation at the knee joint was performed. A few months later, in addition, the hip flexion contracture was released. The boy was taught to walk with a prosthesis. At the age of 31 years, he has a sedentary job and is more troubled by his urogenital than his orthopaedic defects. He prefers to walk with crutches and for a few years has no longer used his prosthesis.
Subject(s)
Ectromelia/surgery , Amputation, Surgical , Angiography , Artificial Limbs , Biomechanical Phenomena , Colostomy , Crutches , Ectromelia/diagnostic imaging , Ectromelia/physiopathology , Ectromelia/rehabilitation , Follow-Up Studies , Humans , Infant , Male , Posture , Treatment Outcome , Urinary Diversion , WalkingABSTRACT
Congenital hypertrichosis universalis is a rare autosomal dominant disease. We report the further development of a Greek girl, now aged 3 years, the first case associated with a balanced structural chromosomal aberration. She was described as a neonate by Sigalas et al. (1990). Her persistent generalized hypertrichosis is most excessive on the face, ears and shoulders. Her fine silky hair is of the vellus, not the lanugo type. The syndrome features are characterized, referring to nine further published case reports. It is distinguished from other types of congenital hypertrichoses, which have been described in the literature under different synonyms. To avoid confusion in the terminology, we propose to name this type of hypertrichosis Ambras syndrome in reference to the first documented family with congenital hypertrichosis universalis in the 16th century.
Subject(s)
Chromosome Inversion , Chromosomes, Human, Pair 8 , Facial Bones/abnormalities , Hypertrichosis/genetics , Nipples/abnormalities , Child, Preschool , Female , Fingers/abnormalities , Humans , Hypertrichosis/congenital , Syndrome , Terminology as TopicABSTRACT
The functional results of total hip prosthesis are influenced significantly by the tension given to the glutaeus medium muscle at operation. Low tension may result in a limp (positive Trendelenburg sign), high tension may decrease movement. In 206 cases of total hip replacement the Trendelenburg sign (grades from 0-3), the movement (in grades 0-4) and a grade of extension (distance or prosthetic femoral head and plastic acetabulum in cm at maximal extension after resection of the capsule) have been evaluated. In 191 hip joints not operated before the Trendelenburg sign was negativ before operation in only 31%, after operation it was negativ in 73%. The evaluation of the partial correlation coefficient showed a definite relation between Trendelenburg sign and the grade of extension. The higher the extensibility of the hip joint the more pronounced the Trendelenburg sign. In 71% of 191 cases the movement was increased after total hip replacement. With increased extensibility, the movement becomes better. However it is also related to the movement before operation. The optimal muscular tension and movement of the hip joint can be expected at an extension grade of 1.5-2.0 cm (distance between the prosthetic femoral head and the plastic acetabulum at maximal extension during operation).
