Individuals presenting with FSS are believed to be at risk for postoperative pulmonary complications ... [accessanesthesiology.mhmedical.com]

However, there is a broad spectrum of variability in the clinical presentation of FSS to the extent that only orofacial manifestations of the disease can be present without abnormalities of the limbs [12]; thus genetic analysis is often needed to reinforce [hindawi.com]

In this report, anesthesia approach in case of FSS in whom operation is planned for circumcision and inguinal hernia repair is presented. [longdom.org]

Fig. 1 Child aged 1 year and 8 months with a typical presentation of Freeman-Burian syndrome (FBS). [ojrd.biomedcentral.com]

The objective of this study was to analyze the presentation, natural history, and outcome of a cohort of individuals ascertained using strict diagnostic criteria for FSS. METHODS. [pediatrics.aappublications.org]

• Dentist

  The multidisciplinary team will usually comprise craniofacial (skull and face) surgeons, neuro (brain) surgeons, ophthalmologists (eye specialists), ear, nose and throat (ENT) surgeons, audiologists (hearing specialists), dentists and orthodontists, geneticists [gosh.nhs.uk]

  It is therefore important for surgeons and dentists to be aware that certain types of anesthesia should be avoided in individuals with Freeman-Sheldon syndrome. [rarediseases.org]

  Patients with FSS should be evaluated and managed from birth by healthcare professionals from multiple fields of medicine including paediatricians, dentists, anaesthesiologists, orthopaedic and craniofacial surgeons, physiotherapists, and occupational [hindawi.com]

• Multiple Organ Dysfunction Syndrome

  organ dysfunction syndrome and death, if not treated aggressively. [hindawi.com]

• Failure to Thrive

  Evaluate physical status: failure to thrive is common as a result of vomiting and swallowing difficulties. Muscle rigidity following halothane anesthesia has been reported, suggesting the presence of an underlying myopathy. [accessanesthesiology.mhmedical.com]

  Affected children may also experience: – a failure to gain weight and grow at the expected rate (failure to thrive) – speech problems – hearing loss. [contact.org.uk]

  Other issues, particularly in infancy include feeding difficulties related to swallowing, frequent vomiting and a failure to thrive. * This composite image of Arthrogryposis, Distal, Type 2A (DA2A) was created to help geneticists get a better analysis [fdna.health]

  People with this disorder may have difficulty swallowing (dysphagia), a failure to gain weight and grow at the expected rate (failure to thrive), and respiratory complications that may be life-threatening. [medlineplus.gov]

  Children with Freeman-Sheldon syndrome may also exhibit speech impairment; swallowing and eating difficulties; vomiting; failure to grow and gain weight at the expected rate (failure to thrive); and/or respiratory problems that may result in life-threatening [rarediseases.org]

• Muscle Rigidity

  Muscle rigidity following halothane anesthesia has been reported, suggesting the presence of an underlying myopathy. Laboratory data should include blood chemistries, blood group, hemoglobin, and coagulation studies. [accessanesthesiology.mhmedical.com]

  Muscle rigidity following halothane anesthesia in two patients with Freeman-Sheldon syndrome. Anesthesiology 1992;77:599–600. 5. Duggar RG, DeMars PD, Bolton VE. Whistling face syndrome: General anesthesia and early postoperative caudal analgesia. [journals.lww.com]

  If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. [medlineplus.gov]

  It is a condition in which muscles enter a hypermetabolic state resulting in elevated temperature as a consequence of heat production, increased heart rate, acidotic breathing, muscle rigidity, and rhabdomyolysis which can lead to acute kidney injury [hindawi.com]

• Microstomia

  Microstomia is a result of diffuse fibrosis within the orbicularis oris muscle. [journals.lww.com]

  Genetic malformative disorder characterized by a microstomia; flat midface with a small, pinched mouth mimicking whistling; clubfeet; and contracted muscles of the joints of the fingers and hands malformations. [accessanesthesiology.mhmedical.com]

  Characteristics include microstomia of the mouth, which gives the person a whistling appearance, a flat face, club feet, contracted joint muscles of the fingers and hands, and underdeveloped nose cartilage.This article describes a case of Freeman-Sheldon [quintessence-publishing.com]

  It is characterised by facial and distal limb contractures, the most common being microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers and talipes equinovarus. [hindawi.com]

  The clinical spectrum includes cranio-facial: long philtrum mouth puckering microstomia H-shaped chin dimple orbital features hypotelorism 8: drooping of the upper eyelids : strabismus: low-set ears gradual hearing loss microcephaly musculoskeletal: arthrogryposis [radiopaedia.org]

• High Arched Palate

  In addition, associated high-arched palate, hypoplastic mandible, short, relatively immobile neck, and high position of the larynx make direct laryngoscopy and orotracheal intubation difficult or impossible. [journals.lww.com]

  The most common is difficult intubation [26, 27], secondary to the microstomia, high arched palate, and micrognathia which does not improve with neuromuscular blockade or general anaesthesia [28]. [hindawi.com]

  Other facial features that may occur in Freeman-Sheldon syndrome include an unusually small tongue (microglossia) and jaw (micrognathia) and a high arch in the roof of the mouth (high-arched palate). [medlineplus.gov]

  It is characterized by a masklike face with a small mouth, giving a whistling face appearance; deep-set eyes; small nose with a broad nasal bridge; epicanthal folds; strabismus; high arched palate; small tongue; an H-shaped cutaneous dimpling on the chin [medscape.com]

• Hand Deformity

  Conclusions: The patients have as common factor the whistler appearance, accompanied with mill crosses hand deformity, adducted thumbs, accompanied or not with inferior extremities deformities, intellectual capacity was normal. [medigraphic.com]

  deformity in which all of the fingers are angled outward) – clubfoot (inward- and downward-turning feet) – curvature of the spine (scoliosis). [contact.org.uk]

  These contractures lead to permanently bent fingers and toes (camptodactyly), a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation, also called "windmill vane hand"), and inward- and downward-turning [medlineplus.gov]

  "[Surgical treatment of the hand deformity in Freeman-Sheldon syndrome]" (in German). Handchir Mikrochir Plast Chir 14 (4): 210–2. PMID 6763591. ^ Wenner SM, Shalvoy RM (November 1989). [dictionnaire.sensagent.leparisien.fr]

• Flexion Contracture

  Patients present with ulnar deviation (90%) and flexion contracture of fingers (88%) accompanied with adduction of the thumb giving the “windmill vane” appearance. Kyphoscoliosis is present in 85% of cases. Talipes equinovarus is common (60%). [accessanesthesiology.mhmedical.com]

• Hip Dislocation

  Unsuccessful surgical release of knee contractures [48] and open reduction of congenital hip dislocations [48, 51] are also described. Other surgeries Correction of spinal deformities is mentioned [54], with one patient requiring HALO traction [48]. [ojrd.biomedcentral.com]

• Low Set Ears

  The clinical spectrum includes cranio-facial: long philtrum mouth puckering microstomia H-shaped chin dimple orbital features hypotelorism 8: drooping of the upper eyelids : strabismus: low-set ears gradual hearing loss microcephaly musculoskeletal: arthrogryposis [radiopaedia.org]

  Signs and symptoms The symptoms of Freeman–Sheldon syndrome include drooping of the upper eyelids, strabismus, low-set ears, a long philtrum, gradual hearing loss, scoliosis and walking difficulties. [owlapps.net]

  As shown in Figure 1, he had multiple craniofacial abnormalities including micrognathia and low-set ears, a wide and flat nasal bridge, ocular hypertelorism, squinted eyes, microstomia, and puckered lips that looked like as if he was whistling. [hindawi.com]

  […] considerations 4.2 Psychiatric considerations 4.3 Medical emphasis 5 Prognosis 6 Epidemiology 7 Research directions 8 References 9 External links Signs and symptoms The symptoms of Freeman–Sheldon syndrome include drooping of the upper eyelids, strabismus, low-set [dictionnaire.sensagent.leparisien.fr]

• Strabismus

  The clinical spectrum includes cranio-facial: long philtrum mouth puckering microstomia H-shaped chin dimple orbital features hypotelorism 8: drooping of the upper eyelids : strabismus: low-set ears gradual hearing loss microcephaly musculoskeletal: arthrogryposis [radiopaedia.org]

  In addition to contractures, common features in these cases included severe scoliosis (85%), strabismus (42%), and hearing loss (30%). Most infants required supplementary feedings via a nasogastric (45%) or gastrostomy tube (17%). [pediatrics.aappublications.org]

  Eye problems, including: – hypertelorism (widely spaced eyes) – deep set eyes – down-slanting palpebral fissures (outside corners of the eyes that point downward) – blepharophimosis (a narrowing of the eye opening) – ptosis (droopy eyelids) – strabismus [contact.org.uk]

  Signs and symptoms The symptoms of Freeman–Sheldon syndrome include drooping of the upper eyelids, strabismus, low-set ears, a long philtrum, gradual hearing loss, scoliosis and walking difficulties. [owlapps.net]

  […] spaced eyes (hypertelorism), deep-set eyes, outside corners of the eyes that point downward (down-slanting palpebral fissures), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and eyes that do not look in the same direction (strabismus [medlineplus.gov]

• Hypertelorism

  The palate is highly arched; mandible and tongue tend to be small; there is an H or V groove on the chin and deeply set eyes with hypertelorism. [accessanesthesiology.mhmedical.com]

  Eye problems, including: – hypertelorism (widely spaced eyes) – deep set eyes – down-slanting palpebral fissures (outside corners of the eyes that point downward) – blepharophimosis (a narrowing of the eye opening) – ptosis (droopy eyelids) – strabismus [contact.org.uk]

  These may include widely spaced eyes (hypertelorism), deep-set eyes, outside corners of the eyes that point downward (down-slanting palpebral fissures), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and eyes that do not look [medlineplus.gov]

  As shown in Figure 1, he had multiple craniofacial abnormalities including micrognathia and low-set ears, a wide and flat nasal bridge, ocular hypertelorism, squinted eyes, microstomia, and puckered lips that looked like as if he was whistling. [hindawi.com]

  In most cases, affected infants have widely spaced eyes (ocular hypertelorism) that are deeply-set and/or crossed (strabismus). [rarediseases.org]

• Mask-like Facies

  Facial characteristics comprise micrognathia, microglossia, high arched palate, vertical skin folds in the jaw, H-shaped chin dimple, and a characteristic “mask-like” facies. Other features are dental crowding, strabismus, and hearing loss. [hindawi.com]

• Mid-Face Hypoplasia

  Children with Freeman Sheldon syndrome may have: Distinctive facial appearance, including: – microstomia (a small mouth) with pursed lips – giving the appearance of a ‘whistling face’ – prominent forehead and brow ridges – mid-face hypoplasia (a sunken [contact.org.uk]

The results of talipes treatment are usually very good with few lasting effects, as are the results of hand surgery. The majority of children grow up to lead a normal life, working and raising a family. [gosh.nhs.uk]

There may be malocclusion (misalignment) of the teeth and orthodontic treatment of this may be required. Opening the mouth fully for dental treatment may be difficult. [contact.org.uk]

Standard Therapies Treatment The treatment of Freeman-Sheldon syndrome is directed toward specific symptoms that are apparent in each individual. [rarediseases.org]

Prognosis Several findings and treatment modalities are predictive of overall clinical outcome. [ojrd.biomedcentral.com]

Treatment and outcomes of arthrogryposis in the lower extremity. Am J Med Genet C Semin Med Genet. 2019 Sep. 181 (3):372-84. [Medline]. [Full Text]. Gagnon M, Caporuscio K, Veilleux LN, Hamdy R, Dahan-Oliel N. [medscape.com]

Prognosis There are little data on prognosis. Rarely, some patients have died in infancy from respiratory failure; otherwise, life expectancy is considered to be normal. [owlapps.net]

Prognosis Several findings and treatment modalities are predictive of overall clinical outcome. [ojrd.biomedcentral.com]

Darin N, Kimber E, Kroksmark AK, Tulinius M: Multiple congenital contractures: Birth prevalence, etiology and outcome. J Pediatr 2002; 140(1): 61-7. [medigraphic.com]

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG. [medscape.com]

We highlight the different features present in our patient and describe the etiology of the Freeman–Sheldon phenotype and how its clinical complications can be dealt with. [hindawi.com]

Further research is wanted to determine epidemiology of psychopathology in FSS and refine therapy protocols. [owlapps.net]

Further research is wanted to determine epidemiology of psychopathology in FSS and refine therapy protocols. References ^ Freeman, EA; Sheldon JH (1938). "Cranio-carpo-tarsal dystrophy: undescribed congenital malformation". [dictionnaire.sensagent.leparisien.fr]

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Am J Med Genet A. 2006 Sep 1. 140A(17):1834-9. [Medline]. Lin IW, Chueh HY, Chang SD, Cheng PJ. [medscape.com]

Epidemiology Population prevalence of FBS is unknown. Aetiology Environmental and parental factors are not implicated in pathogenesis. Allelic variations in embryonic myosin heavy chain gene are associated with FBS. [ojrd.biomedcentral.com]

"Persistent elevations of cerebrospinal fluid concentrations of corticotropin-releasing factor in adult nonhuman primates exposed to early-life stressors: implications for the pathophysiology of mood and anxiety disorders". Proc. Natl. Acad. Sci. [dictionnaire.sensagent.leparisien.fr]

Evaluating the biochemical burden and gross physiological consequences of aberrant ATP functioning in FBS are especially important in developing targeted therapeutic interventions that can compensate for this pathophysiology and eventually to correct [ojrd.biomedcentral.com]

Littler JW: The prevention and the correction of adduction contracture of the thumb. Clin Orthop 1959; 13: 182-5. Hall J: Arthrogryposis multiplex congenital: etiology, genetics, classification, diagnostic proach and general aspects. [medigraphic.com]

"[Health in stress: change in the stress concept and its significance for prevention, health and life style]" (in German). Gesundheitswesen 64 (2): 73–81. doi:10.1055/s-2002-20275. PMID 11904846. ^ Lesinskiene S, Kajokiene A, Pūras D (2002). [dictionnaire.sensagent.leparisien.fr]

Bilateral commissurotomy followed by the use of a patient customized dynamic oral commissure retractor has been effective in dealing with microstomia and preventing recurrence due to scar contracture that occurs months following surgical intervention [hindawi.com]

Management must be proactive to avoid preventable complications and optimise the patient’s functional and occupational status—not reactive maintenance. [ojrd.biomedcentral.com]