[…] if the condition was present at the time of inpatient admission. [icd.codes]

Lid colobomas and down-slanting palpebral fissures may be present. [disorders.eyes.arizona.edu]

On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery, are [icd10data.com]

Abstract A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive. [ncbi.nlm.nih.gov]

• Anemia

  Blue sclera were identified in 2 patients in the absence of anemia. Blue sclera as an indication of iron-deficiency has sensitivity of 89, specificity of 64 and accuracy of 82%. It is an additional sign in identification of anemia. [unboundmedicine.com]

  Figure 1 Blue-tinged sclera secondary to severe iron deficiency anemia. Figure 1 Blue-tinged sclera secondary to severe iron deficiency anemia. The patient was admitted to the hospital, given a blood transfusion and started on iron supplements. [academic.oup.com]

  Bone and blood disorders also on the list include Diamond–Blackfan anemia, severe iron deficiency anemia, Juvenile Paget's disease, and acid phosphatase deficiency. [3] Most cases of OI are inherited from a parent. [kjophthal.com]

• Pallor

  Three observers independently graded the signs of blue sclerae and mucosal pallor as absent, equivocal, definite, or striking. [ncbi.nlm.nih.gov]

  Osler 1 and confirmed recently in adults. 2 In these studies, blue sclerae appeared more sensitive and equally specific as an indicator of IDA than mucosal pallor. 4 Because IDA is common in young children even in industrialized countries, and since infants [pediatrics.aappublications.org]

  Scleral changes are associated with systemic disease and metabolic conditions such as anemia, liver disease and osteogenesis imperfecta. 1–3 These changes include pallor, blue-tinged sclera and scleral icterus. [academic.oup.com]

• Severe Pain

  Symptoms • moderate to severe pain • deep and boring in character and often • wakes the patient early in the morning. • radiates to the jaw and temple. • localised or diffuse redness • mild to severe photophobia • lacrimation. 24. Signs • 1. [slideshare.net]

• Failure to Thrive

  […] to thrive Strabismus Pica Rare Symptoms - Less than 30% cases Autoimmunity Global developmental delay Abnormality of the kidney Intellectual disability, moderate Clinodactyly Cerebral cortical atrophy Obesity Thin skin Generalized hypotonia Ptosis Hearing [mendelian.co]

  Marshall-Smith syndrome MedGen UID: 75551 •Concept ID: C0265211 • Disease or Syndrome The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties [ncbi.nlm.nih.gov]

• Hypertension

  He had a history of hypertension and chronic kidney disease. [academic.oup.com]

  Ray-Peterson-Scott syndrome - blue sclerae Recurrent hereditary polyserositis Spondyloepimetaphyseal dysplasia joint laxity - blue sclerae Spondyloepimetaphyseal dysplasia with joint laxity - blue sclerae Van der Hoeve's syndrome Vater-like syndrome, with pulmonary hypertension [elearning.ju.edu.jo]

  ALKAPTONURIA; AKU Is also known as homogentisic acid oxidase deficiency;hereditary ochronosis; homogentisic acid oxidase deficiency Related symptoms: Autosomal recessive inheritance Pain Hypertension Abnormality of metabolism/homeostasis Kyphosis SOURCES [mendelian.co]

  Her past medical history also was significant for hypertension, multiple cutaneous cancers (including squamous cell carcinoma, basal cell carcinoma and melanoma), rosacea, hypothyroidism and arthritis. [aao.org]

• Erythema

  Generalized hypotonia Ptosis Hearing impairment Ventriculomegaly Feeding difficulties Arthritis Nevus Cryptorchidism Abnormal facial shape Single transverse palmar crease Arthralgia Motor delay Polymicrogyria Hydroureter Astigmatism Platyspondyly Proptosis Erythema [mendelian.co]

• Fracture

  The mother had had a femoral-neck fracture at the age of 3 years and fractures of the elbow and wrist at the age of 10 and 13 years, respectively. All fractures occurred after minimal trauma. [nejm.org]

  Individuals are often of normal height, have blue sclerae and develop fractures after ambulation. Type II is most severe and results in perinatal death from multiple intrauterine fractures and cardiorespiratory compromise. [empr.com]

  In case of bone and spinal deformities, and long bone fractures can be necessary surgical management. At last, it is recommendable physiotherapy in order to improve mobility and reduce the risk of fractures. [iofbonehealth.org]

  Case summary A 5-year-old boy was presented with a recurrent history of fractures since the age of 3 years. He had 2–3 admissions per year due to fall and had a history of fractures at his right ankle, left femur and three times at his left elbow. [ncbi.nlm.nih.gov]

  […] recurrent fracture,contussions,have effective treatment in homeopathy 0 Reply [dailyrounds.org]

• Osteoporosis

  Most common genetic cause of osteoporosis. Longer use of bisphosphonates can be associated with nonunion after fractures and abnormal remodeling. [dailyrounds.org]

  In bone, this defect results in osteoporosis, thus increasing the tendency to fracture. Besides bone, type I collagen is also a major constituent of dentin, sclerae, ligaments, blood vessels, and skin 4. [radiopaedia.org]

  The reader should be aware that the same term is used when writing about the condition osteoporosis. Both conditions are associated with fractures but osteoporosis is a very different disorder that is very common, and is not an HDCT. [hypermobility.org]

  His medical history included 27 bone fractures before age 12 years, multiple tendon ruptures, osteoporosis, a mechanical aortic valve replacement, and recurrent corneal erosions. [jaoa.org]

• Blue Sclera

  Marshall-Stickler syndrome may exist in the differential diagnosis of keratoglobus with blue sclera. [ncbi.nlm.nih.gov]

  Blue sclera does not mean blue baby As per expert pediatricians, the majority of the cases do not show any complication in the long run. The sclera of the eyeballs is born thin. [m.dailyhunt.in]

  The amblyopic left eye had initial surgery in order to assess possible technical difficulties associated with the blue sclera and high hypermetropia. [nature.com]

  [Blue Sclera in Iron Deficiency Conditions]. Klin Med (Mosk). 1991;69(8):85-6. PubMed PMID: 1791721. TY - JOUR T1 - [Blue sclera in iron deficiency conditions]. [wwww.unboundmedicine.com]

• Visual Impairment

  impairment Cognitive impairment Hypocalcemia Abnormal palate morphology Diaphyseal thickening Hodgkin lymphoma Metaphyseal cupping Mucopolysacchariduria Cellular immunodeficiency Aplasia/Hypoplasia of the abdominal wall musculature Aplasia/Hypoplasia [mendelian.co]

  31 16:45-17:30 Técnica de iontoforesis en cross-linking IS-SU-180 Childhood Blindness and Visual Impairment in Asia-Pacific Region IS-SU-113 Update on Retinoblastoma IS-SU-105 Difficult Problems in Strabismus IS-SU-106 Contemporary Management of Amblyopia [mafiadoc.com]

• Hearing Impairment

  In some cases, individuals with OI type I may develop abnormalities affecting the middle and/or inner ears contributing to, or resulting in, hearing impairment (i.e., conductive and/or sensorineural hearing loss). [rarediseases.org]

  impairment Uveitis Hyperhidrosis Congenital ichthyosiform erythroderma Impaired lymphocyte transformation with phytohemagglutinin Hydrocephalus Ventricular septal defect Tics Brachydactyly High palate Sensorineural hearing impairment Susceptibility to [mendelian.co]

  Stapes surgery is successful in resolving the conductive hearing loss in OI patients, even in the long term. Moreover it could reduce the progression of sensorineural hearing impairment. [synergypublishers.com]

  Oral and intravenous biphosphonate are commonly prescribed for all types of OI.7 Regular surveillance for hearing impairment every 3–5 years is recommended for all types of OI after adolescence as disease progression is invariable.6 Footnotes Md Shukri [ncbi.nlm.nih.gov]

  In general, four major clinical features characterize osteogenesis imperfecta 5 : osteoporosis with abnormal bone fragility blue sclera dentinogenesis imperfecta hearing impairment Other features include ligamentous laxity and hypermobility of joints, [radiopaedia.org]

• Suggestibility

  He also suggests a relation between myasthenia gravis, and osteogenesis imperfecta. Smith [2] has reported an isolated cellular blue naevus of sclera, along with retinal detachment. [ijps.org]

  The doctors suggest not to worry as the sclera regains its natural thickness and turns out to be white in the long run. With the formation of the bones in the babies, the sclera becomes thicker and stronger. The bluish tinge eventually disappears. [m.dailyhunt.in]

  I suggest that since there are worrisome possibilities with a blue sclera, that I would schedule that pediatric appointment sooner than later. Good luck. [zocdoc.com]

  The external appearance can suggest buphthalmos but intraocular pressure is normal. The sclerae are bluish suggesting that the connective tissue defect is more widespread among eye tissues. The lens is not hypermobile, however. [disorders.eyes.arizona.edu]

• Confusion

  October 2010 Arch Ophthalmol. 2010;128(10):1376-1379. doi:10.1001/archophthalmol.2010.238 Blue sclera with corneal fragility characterizes brittle cornea syndrome (BCS) (OMIM #229200), an underrecognized predominantly ocular disorder that is often confused [jamanetwork.com]

  Genetics A number of conditions are associated with fragile bones and the classification of these in the early literature is confusing. More confusion arises from classification schemes based solely on clinical degrees of severity. [disorders.eyes.arizona.edu]

  […] despite oxygen therapy. [3] It has previously been used for cyanide poisoning and urinary tract infections, but this use is no longer recommended. [1] It is typically given by injection into a vein. [1] Common side effects include headache, vomiting, confusion [en.wikipedia.org]

  Skeletal dysplasia EEG abnormality Venous thrombosis Chorioretinal coloboma Cachexia Generalized hirsutism Abnormality of the metacarpal bones Hemangioma Thickened skin Overgrowth Lymphedema Sinusitis Subcutaneous nodule Sudden cardiac death Open mouth Confusion [mendelian.co]

• Agitation

  Methylene blue value of fine aggregate [ edit ] Methylene blue value reflects the amount of clay minerals in aggregate samples. [38] Methylene blue solution is successively added to fine aggregate which is being agitating in water. [en.wikipedia.org]

• Papilledema

  Abdominal distention Periodontitis Gliosis Reduced number of teeth Truncal obesity Palmoplantar hyperkeratosis Capillary hemangioma Multiple cafe-au-lait spots Spinal canal stenosis Neoplasm of the lung Pulmonary embolism Arteriovenous malformation Papilledema [mendelian.co]

Treatment Treatment Options: Treatment beyond corneal repair is limited. References [disorders.eyes.arizona.edu]

Thanks for the case. 6 Reply osteogenesis imperfecta 0 Reply Stripped appearance in bone and jaw necrosis occurs with bisphosphonates 2 Reply ✔️️ZEBRA STRIPE SIGN-sclerotic growth recovery lines in long bones by cyclic bisphosphonate treatment in osteogenesis [dailyrounds.org]

Pre-treatment OCT appearance of FTMH OD (c) and OS (d). Post-treatment OCT appearance showing closure of FTMH OD (e) and OS (f). Punched-out retinal defect on OCT in patient’s son OD (g) and OS (h). [nature.com]

Prognosis is very variable depending on type ranging from being uniformly lethal from type II to a slight reduction in life expectancy for type I. [radiopaedia.org]

Prognosis The prognosis for a person with Osteogenesis Imperfecta varies greatly depending on the number and severity of symptoms. Life expectancy is not affected in people with mild or moderate symptoms. [bbcbonehealth.org]

Outlook (prognosis) How well a person does depends on the type of OI they have. Type I, or mild OI, is the most common form. [kjophthal.com]

I believe this supports the theory that these lesions have a general relative etiology, and the findings in this case demonstrating various stages of the same disease indicate that it is not due to parathyroid disease. [mdedge.com]

Etiology Blue sclera is the most consistent manifestation of OI, which results from a mutation in COLIA1 and COL1A2, coding for type I procollagen. However, classifications of this condition (types IV–VI) have been identified with normal sclerae. [link.springer.com]

ETUDE FAMILIALE SCLEROTIQUE BLEUE FRACTURE ENFANT ETIOLOGIE OSTEOPATHIE HEREDITAIRE OEIL PATHOLOGIE SCLEROTIQUE HOMME ORL STOMATOLOGIE Keyword (en) OSTEOGENESIS IMPERFECTA CONDUCTION HEARING LOSS YOUNG ADULT FAMILY STUDY BLUE SCLERA FRACTURES CHILD ETIOLOGY [pascal-francis.inist.fr]

Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta [published correction appears in Eur J Hum Genet. 2015;23(8):1112. doi:10.1038/ejhg.2015.129]. [jaoa.org]

Epidemiology Incidence is approximately 1/15,000-1/20,000 live births but this may be underestimated, as milder forms can evade diagnosis [ 7 ]. It is the leading cause of lethal short-limbed dwarfism and skeletal dysplasia. [patient.info]

This is due to the sclera being thinner than normal because the defective Type I collagen is not forming correctly. [2] Epidemiology In the United States, the incidence of OI is estimated to be one per 20,000 live births. [kjophthal.com]

However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ]. [patient.info]

An estimated 20,000-50,000 people are affected by OI in the United States. [3] Pathophysiology People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type I collagen. [kjophthal.com]

Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. [icdlist.com]

Dermatologic management mainly focuses on prevention. Patients should be advised to avoid harsh skin products and be conscious of avoiding trauma and resultant scarring. [empr.com]

People with OI are encouraged to exercise as much as possible to promote muscle and bone strength, which can help prevent fractures. [oif.org]

[…] require a multidisciplinary team consisting of orthopaedic specialists (fracture), otorhinolaryngologists (hearing loss), physicians and dental surgeons.6 Besides surgery, treatment can involve the use of pharmacological agents, psychological support and preventive [ncbi.nlm.nih.gov]

Prevention Genetic counseling is recommended for couples considering pregnancy if there is a personal or family history of this condition. [7] Case Report A 32 years old male patient of Andaman & Nicobar Island reported to our OPD with an enquiry of his [kjophthal.com]