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Genetic disorder leading to skeletal dysplasia.

Kniest-like Dysplasia with Pursed Lips and Ectopia Lentis.

Only three cases reported in the literature.

First described in two siblings, one male and one female. A second case in a 2-year-old girl subsequently was reported. Mode of inheritance is uncertain, but autosomal recessive or gonadal mosaicism is most likely.

Iliac bone biopsy reveals markedly abnormal cartilage matrix in certain areas with large clumps of aggregated collagen fibrils. The growth plates are shorter than normal; however, the resultant calcified cartilage and bone trabeculae appear normal. Electron microscopy confirms the presence of broad-banded, aggregated collagen fibers, 10 to 30 times broader than normal, scattered throughout the cartilage matrix.

Based on the characteristic clinical and radiologic findings. The analysis of bone biopsy specimens reveals distinctive abnormalities in the cartilage matrix.

Characterized by short stature (< 3rd percentile), shortness and bowing of limbs, bell-shaped thorax with flaring of lower ribs, short neck, rhizomelia, talipes equinovarus, mild craniofacial disproportion, stiffness, and swelling of wrists and knees. Other features include microstomia high-arched palate, pursed lips, and ectopia lentis. Radiologic findings of platyspondyly with cervical kyphosis resulting in decreased neck mobility, pectus carinatum, increased lumbosacral angle, bowing and shortening of the lower limbs, dumbbell-shaped long bones, short diaphyses, flared metaphyses and metaphyseal sclerosis, delayed ossification of the femoral heads and dysplastic femoral necks, wide short ribs, short and broad pelvis with narrow sacrosciatic notches, and brachydactyly are present. Unlike Kniest dysplasia, coronal clefts are absent. Psychomotor development appears normal for age.

Preoperative assessment should include a full history and examination. Careful assessment of the airway to determine the potential for difficult airway management (microstomia, cervical kyphosis and limitation of neck movements reported by age 1.5 years). Radiologic investigation to assess neck stability may be required in the presence of cervical vertebral dysplasia. Anticholinergic premedication to decrease secretions can be of value in the younger age group, particularly if difficult airway management and/or fiberoptic intubation is anticipated. Use lung function tests to assess respiratory function.

Induction of anesthesia must take into consideration the potential for difficult airway management (small mouth, reduced neck mobility). A gaseous induction with halothane or sevoflurane may be advisable with a selection of devices available for control of the airway and tracheal intubation. During anesthesia, the neck should be maintained in a neutral or slightly extended position with adequate neck support at all times. Although not reported as being a problem in infants with this syndrome, respiratory insufficiency following anesthesia may be a potential risk in these children as they become older and the degree of thoracic dystrophy increases. Preoperative assessment and the nature of the surgery should enable the anesthesiologist to determine if postoperative respiratory support will be required. The patient should be positioned carefully with adequate padding and support to all areas because of fixed deformities in the limbs ...

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