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Coffin-Lowry syndrome (CLS) is a rare genetic disorder inherited in an X-linked dominant pattern. Common manifestations include intellectual disability, growth retardation, dysmorphic facial features, and variable skeletal anomalies. Here we report a patient who first presented with episodes of apparent life-threatening events (ALTE) found to be caused by hydrocephalus and brainstem compression at the foramen magnum. Together with his small size, short limbs and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of hypochondroplasia. Subsequent evaluation and testing lead to the correct diagnosis of CLS. This case demonstrates the variability in presentation of CLS, and that skeletal findings may be misleading in infancy. © 2017 Wiley Periodicals, Inc., (© 2017 Wiley Periodicals, Inc.)

Some cases of Coffin-Lowry syndrome recognized episodic drops and it tended to be intractable for medical treatment. We reported here a patient with the Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome (OSAS). The patient had epileptic seizures and drop attacks only during night-time and it was not recognized during the daytime. His sleep-induced electroencephalogram was normal. At 12-years old of his age, his OSAS was worse, so we performed a tracheotomy. Notably after the operation, his epileptic episodes were disappeared.

Background: Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis. Due to its scarce incidence, it is difficult making an early diagnosis. The aim of this report was to document the anatomical peculiarities identified during the surgical treatment of a patient with this syndrome., Clinical Case: Male patient with Coffin-Lowry syndrome who evolved with narrow cervical canal plus myelomalacia at short age, making decompression from C3 to C6 and instrumentation from C2 to C7 necessary. During the surgery, in addition to calcification of the yellow ligament, adhesions on the dura mater from C4 to C4, dark purplish color in this area and hourglass-shaped thinning were found; the ends at C3 and C6 were normal. The purpose of the surgery was to stop the myopathy. Post-operatively, the patient had pulmonary complications; at the sixth day he passed away due to ventilatory complications and inadequate secretion control., Conclusions: The Coffin-Lowry syndrome is a rare diagnosis in our country; neurological involvement at the spinal level is characterized by kyphosis or scoliosis; for its diagnosis, an adequate medical history and a karyotype are necessary.