[…] 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]

• Short Stature

  Microcephaly, short stature, and impaired glucose metabolism 2 MedGen UID: 906140 •Concept ID: C4225195 • Disease or Syndrome Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B [ncbi.nlm.nih.gov]

  Top matches: High match CARTILAGE-HAIR HYPOPLASIA; CHH Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short-limbed short stature and fine, sparse hair. [mendelian.co]

  Individuals are of short stature, have dentinogenesis imperfecta, and display mild-moderate skeletal deformities. The sclerae are typically not blue. [empr.com]

  stature, dentinogenesis imperfecta, blue sclerae, laxity of ligaments, and hearing loss. 2 There are 7 different types of osteogenesis imperfecta: the severity of the clinical presentation varies to some degree among these types. [consultant360.com]

• Weakness

  Case report A 54-year-old man presented with 1 week history of dizziness, worsened on standing, generalized weakness and decreased exercise tolerance. He had a history of hypertension and chronic kidney disease. [academic.oup.com]

  Health issues frequently seen in children and adults who have Osteogenesis Imperfecta include: Short stature Weak tissues, fragile skin, muscle weakness, and loose joints Bleeding, easy bruising, frequent nosebleeds and in a small number of people heavy [bbcbonehealth.org]

  Ciliary staphyloma • bulge of weak sclera lined by ciliary body. • about 2-3 mm away from the limbus • thinning of sclera following perforating injury, • scleritis and absolute glaucoma. Ciliary staphyloma 41. [slideshare.net]

• Surgical Procedure

  The limbs might be deformed and need multiple surgical procedures. Hypophosphatasia This is a typical hereditary condition where the newborns have a lower level of phosphate in the body. [m.dailyhunt.in]

  Care of fractures, extensive surgical and dental procedures, and physical therapy are often recommended for people with OI. [oif.org]

  A scleral buckle is not a condition of the sclera — it's the name of a surgical procedure used to repair or prevent a detached retina. [allaboutvision.com]

  Patients rarely walk, even after multiple surgical procedures and they have very short stature. Early death can occur from respiratory infections predisposed to by reduction in vital capacity associated with severe kyphoscoliosis. [patient.info]

• Camping

  Randy Guss – Drummer for Toad the Wet Sprocket.[18][19] Kalyn Heffernan – A Hip-hop artist and producer known for the group Wheelchair Sports Camp.[20] Gaelynn Lea – A violinist who has worked with Alan Sparhawk[21] and won an NPR Music contest.[22][23 [en.wikipedia.org]

• Mobility Impairment

  The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to [ncbi.nlm.nih.gov]

• Mitral Valve Prolapse

  valve prolapse, thin skin, increased fracture rate throughout childhood (ensues when child begins to walk, decreases after puberty, then increases after menopause and in men aged 60–80 years), and biconcave flattened vertebrae. [iofbonehealth.org]

  Cardiac effects are important; they include aortic incompetence, aortic root widening and mitral valve prolapse. Often there is hypermobility of joints, with flat feet, hyper-extensible large joints and dislocations. [patient.info]

  Systemic Features: Skin laxity with easy bruisability, pectus excavatum, scoliosis, congenital hip dislocation, a high arched palate, mitral valve prolapse and recurrent shoulder dislocations are often present. [disorders.eyes.arizona.edu]

• Severe Short Stature

  Top matches: High match CARTILAGE-HAIR HYPOPLASIA; CHH Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short-limbed short stature and fine, sparse hair. [mendelian.co]

  Microcephaly, short stature, and impaired glucose metabolism 2 MedGen UID: 906140 •Concept ID: C4225195 • Disease or Syndrome Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B [ncbi.nlm.nih.gov]

• Muscle Cramp

  Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. Mitral valve prolapse can occur infrequently, but tends to be of little clinical consequence. [ncbi.nlm.nih.gov]

• 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]

• Strabismus

  JP Medical Ltd, London, p 366 Google Scholar Hoyt CS, Taylor D (2012) Pediatric ophthalmology and strabismus, 4th edn. Elsevier, Berlin, p 318 Google Scholar Hunt K (2002) Core curriculum for ophthalmic nursing, 2nd edn. [link.springer.com]

  J Pediatr Ophthalmol Strabismus 1994; 31 : 268–269. 3. Ganesh A, Jenny C, Geyer J, Shouldice M, Levin AV. Retinal hemorrhages in type 1 osteogenesis imperfecta after minor trauma. Ophthalmol 2004; 111 : 1428–1431. 4. [nature.com]

• Retinal Hemorrhage

  Retinal detachment in osteogenesis imperfecta. J Pediatr Ophthalmol Strabismus 1994; 31 : 268–269. 3. Ganesh A, Jenny C, Geyer J, Shouldice M, Levin AV. Retinal hemorrhages in type 1 osteogenesis imperfecta after minor trauma. [nature.com]

  Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. [ncbi.nlm.nih.gov]

• 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]

• 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]

• Thin Skin

  skin, increased fracture rate throughout childhood (ensues when child begins to walk, decreases after puberty, then increases after menopause and in men aged 60–80 years), and biconcave flattened vertebrae. [iofbonehealth.org]

  Affected infants may also have abnormally thin, fragile skin and low muscle tone (hypotonia). [rarediseases.org]

  […] of soles Hyperextensible skin Epidermal nevus Retinal hamartoma Abnormal subcutaneous fat tissue distribution Thymus hyperplasia Fragile skin Hypermelanotic macule Atrophic scars Long nose Bronchogenic cyst Depigmentation/hyperpigmentation of skin Neoplasm [mendelian.co]

• Macula

  Following successful closure of the left macular hole ( Figure 1f ) she underwent a similar procedure to the right eye but with 23 g instrumentation leading to successful closure of the right macula hole ( Figure 1e ). [nature.com]

  Paraguayan Society of Ophthalmology* Peruvian Society of Ophthalmology* Portuguese Society of Ophthalmology* Puerto Rican Society of Ophthalmology Participating Societies Pan-American Retina & Vitreous Society (SPRV)* Spanish Society of Ophthalmology* The Macula [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]

• Hypertelorism

  It is not necessarily caused by any disease, but is common in individuals with Osteogenesis Imperfecta.[1] In a broader sense, triangular face encompasses a constellation of a hypoplastic face with prominent zygomatic arches, orbital hypertelorism, sunken [en.wikipedia.org]

  PROTEUS SYNDROME Is also known as gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly;partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome Related symptoms: Intellectual disability Seizures Pica Scoliosis Hypertelorism [mendelian.co]

  Hypertelorism and microphthalmia can be present. The sclerae can have a bluish hue. Cataracts and central corneal clouding plus scleralization and vascularization of the peripheral corneas are sometimes seen. [disorders.eyes.arizona.edu]

  Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. [ncbi.nlm.nih.gov]

• 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]