Leisti Hollister Rimoin syndrome
Overview
A triad of short stature, speech and psychomotor development delay, and facial anomalies. The original cases were reported at the Boston Floating Hospital and Harbor General Hospital, Torrance, California, hence the name Floating-Harbor syndrome. Source - Diseases Database
Symptoms
* Postnatal growth deficiency * Delayed bone age * Speech delay * Mental retardation * Broad nose * Bulbous nose * Prominent nasal bridge * Short philtrum * Smooth philtrum * Wide mouth * Thin lips * Prominent eyes in infancy * Low neck hairline * Posteriorly rotated ears * Short neck * Fifth finger clinodactyly * Brachydactyly * Broad thumbs * Loose joints * Postnatal growth deficiency * Delayed bone age * Speech delay * Mental retardation * Broad nose * Bulbous nose * Prominent nasal bridge * Short upper lip groove * Smooth upper lip groove * Wide mouth * Thin lips * Prominent eyes in infancy * Low neck hairline * Posteriorly rotated ears * Short neck * Fifth finger clinodactyly * Short digits * Broad thumbs * Loose joints * Long eye lashes
Causes
Transient or intermittent setting-sun sign usually occurs late in the infant with increased ICP. He may have bulging, widened fontanels, an increased head circumference, and widened sutures. He may also exhibit a decreased LOC, behavioral changes, a high-pitched cry, pupillary abnormalities, and impaired motor movement as ICP increases. Other findings include increased systolic pressure, widened pulse pressure, bradycardia, changes in breathing pattern, vomiting, and seizures as ICP increases.
Diagnosis
If you observe the setting-sun sign in an infant, evaluate his neurologic status; then obtain a brief history from his parents. Has the infant experienced a fall or even a minor trauma? When did this sign appear? Ask about early nonspecific signs of increasing ICP: Has the infant’s sucking reflex diminished? Is he irritable, restless, or unusually tired? Does he cry when moved? Is his cry high pitched? Has he vomited recently? Next, perform a physical examination, keeping in mind that neurologic responses are primarily reflexive during early infancy. Assess the infant’s LOC. Is he awake, irritable, or lethargic? Keeping in mind his age and level of development, try to determine his ability to reach for a bright object or turn toward the sound of a music box. Observe his posture for normal flexion and extension or opisthotonos. Examine muscle tone, and observe for seizure automatisms. Examine the infant’s anterior fontanel for bulging, measure his head circumference and compare it with previous results, and observe his breathing pattern. (Cheyne-Stokes respirations may accompany increased ICP.) Check his pupillary response to light: Unilateral or bilateral dilation occurs as ICP rises. Finally, elicit reflexes that are diminished in increased ICP, especially Moro’s reflex. Keep endotracheal intubation equipment available.
Treatment
▪ Monitor the patient's vital signs and neurologic status. ▪ Elevate the head of the crib to at least 30 degrees, and monitor intake and output. ▪ Monitor ICP, restrict fluids, and insert an I.V. catheter to administer a diuretic. ▪ For severely increased ICP, prepare for ET intubation and mechanical hyperventilation to reduce serum carbon dioxide levels and constrict cerebral vessels. ▪ Anticipate therapy to induce a barbiturate coma or hypothermia therapy to lower the metabolic rate. ▪ Maintain a calm environment. ▪ Perform nursing duties judiciously because procedures may further increase ICP. ▪ Encourage the parents' help in calming the infant, and offer them emotional support.
Resources
Main name of condition: Floating Harbor Syndrome Other names or spellings for Floating Harbor Syndrome: Leisti-Hollister-Rimoin syndrome, Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes, Pelletier-Leisti syndrome, FHS, Unusual facies, short stature, delayed bone age and hypoplastic penis FHS, Pelletier-Leisti syndrome, Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)