Characterized by short stature, brachydactyly,
limitation of joint movement, microspherophakia, luxated lenses, glaucoma,
and heart malformations (pulmonary stenosis, either valvular or subvalvular,
and congestive cardiac failure).
Spherophakia-Brachymorphia Syndrome; Congenital
Mesodermal Dysmorphodystrophy; Dystrophia Mesodermalis Congenital
Both autosomal dominant and autosomal
recessive transmission have been reported. However, the latter is the most
probable mode, since there is only a partial expression in heterozygote
The pathogenesis is unknown, but the similarities
with Marfan syndrome suggest that a disorder of the connective tissue may be
Mainly clinical, where ophthalmological findings and a
particular somatic morphology leads to the diagnosis of the syndrome. Gene
probably located at 19p13.3-p13.2.
The ocular findings include bilateral microspherophakia
and associated lens dislocation. Some patients also present with congenital
glaucoma, or may develop in later years. The musculoskeletal characteristics are short
stature with brachydactyly and joint stiffness, mainly in the elbows,
wrists, and hands, but the hips and knees may also be involved. Others
features include spina bifida occulta, abnormal vertebral size, cone
epiphyses, metaphyseal anomaly, wide rib cage, myopathy, thickened skull
with brachycephaly, and short neck. Cardiac problems mainly involve pulmonary
stenosis, either valvular or subvalvular, that may lead to congestive
cardiac failure if undiagnosed and untreated. Intelligence is normal.
Obtain an ECG and an echocardiogram if
there is a clinical suspicion of cardiac involvement. Evaluate the airway for a potentially difficult tracheal
intubation (clinical, radiographs).
Because of the joint stiffness,
positioning might be more problematic and adequate padding is necessary to
avoid compression injuries. If the patient has heart disease, the
anesthetic should be managed according to the type of lesion.
Antibioprophylaxis given as needed to
prevent endocarditis as indicated. Medications for glaucoma include the
organophosphates such as echothiophate and isofluorphate. These drugs
inhibit serum cholinesterase, which is responsible for the hydrolysis and
inactivation of succinylcholine and the ester-type local anesthetics (e.g.
procaine, chloroprocaine and tetracaine). These ester-type local anesthetics
should be avoided in patients treated with eyedrops containing
organophosphate. Review current medication in view of glaucoma (avoid
atropine and other drugs incriminated). Muscle relaxants should only be used
after airway is secured and lung ventilation confirmed. Succinylcholine should probably be avoided because
of myopathy and also in the presence of glaucoma.
Marfan Syndrome: An inherited disorder that
affects the connective tissue of the cardiovascular system. The
musculoskeletal and ocular systems are also affected. Major features include
unusual height, large hands and feet, severe lordoscoliosis, and pulmonary
dysfunctions. It is inherited as an autosomal dominant trait.
Ectopia Lentis: Characterized by partial or complete
displacement of the lens of the eye. It may present as congenital or
progressive after birth. It can also be associated as a result of trauma. In
such cases, the condition may be present at birth or develop later during
life. Simple ectopia lentis is usually ...