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

Half of the present patients had cephalic presentation while the other half showed one of the considered risk presentations (breeched, transverse, or other position). [jped.elsevier.es]

Corneal abnormalities such as opacities or sclerocornea may be present. [disorders.eyes.arizona.edu]

JP Medical Ltd, ٣١‏/٠٣‏/٢٠١٢ - 548 من الصفحات The ninth edition of Ocular Differential Diagnosis is a practical manual to help practitioners make a quick diagnosis based on presentation and symptoms. [books.google.com]

• Developmental Delay

  […] membranous cranial ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency Developmental delay-deafness syndrome, Hildebrand type Diaphanospondylodysostosis [se-atlas.de]

  Most developmental milestones are delayed or never achieved and death may occur in early childhood. [disorders.eyes.arizona.edu]

  […] findings: -Renal failure -Pulmonary hypoplasia AD assoc findings: -Liver cysts -Pancreatic cysts -Aneurysms -Diverticulosis Nephrogenic DI *X-linked, AR, and AD forms Sturge-Weber Syndrome *Sporadic Port wine stain Seizures (angiomas of meninges) Glaucoma Developmental [quizlet.com]

• Weakness

  Children may also may have a blue tint to the whites of their eyes and hearing loss due to weak bones in the inner ear. Children with OI generally have poor dental structure and loose joints. [rainbowkids.com]

  […] hypogonadism Malignancies Thrombocytopenia Absent radii ICH (risk decreases after age 2) Limb anomalies but ALWAYS have a thumb (unlike Fanconi's or Diamond Blackfan) Petechiae Duchenne Muscular Dystrophy *X-Linked Defect in dystrophin Proximal muscle weakness [quizlet.com]

  synophrys X-linked ARX #300004 PSEUDOEXFOLIATION SYNDROME Glaucoma, white flaky deposits on anterior lens and pupillary border of iris, iris transillumination defects, pigmented granules on trabecular meshwork, poor pupillary response in dilation, weak [eyewiki.aao.org]

  Muscle cramps, muscle weakness, easy fatigability. Myoglobinuria with strenuous exercise. [kumc.edu]

• Movement Disorder

  Epstein Syndrome Erythermalgia, Primary Erythrocyte Lactate Transporter Defect Escobar Syndrome Essential Fructosuria Ethylmalonic Aciduria Excessive Daytime Sleepiness Exostoses, Multiple, Type II Extrapyramidal Movement Disorder Fabry Disease Faciogenital [sequencing.com]

  Other characteristic features of this syndrome include facial asymmetry with a prominent lower lip, nasal voice, unsteady gait, nonspecific movement disorder, EEG abnormalities, seizures, and diminished muscle bulk. 89 – 91 Stickler syndrome Stickler [nature.com]

• Small Head

  head and a small brain. [icdlist.com]

• Skin Disease

  Flynn Aird syndrome 0 *Cataract *Central Nervous System Diseases *Dental Caries *Hearing Loss, Sensorineural *Joint Diseases *Retinitis Pigmentosa *Skin Diseases. [reference.md]

  disease Rare skin disease Rare surgical thoracic disease Rare syndromic intellectual disability Rare systemic or rheumatologic disease Rare urogenital disease Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Renier-Gabreels-Jasper [se-atlas.de]

• Blonde Hair

  Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat). Treatment: remove phenylalanine from diet. [kumc.edu]

• Hematuria

  […] complement C2 deficiency S erositis: pleuritis/pericarditis O ral ulcers A rthritis/synovitis (usually peripheral polyarthritis) P hotosensitivity B lood Dyscrasias: hemolytic anemia, leukopenia, lymphopenia, thrombocytopenia R enal: proteinuria, casts, hematuria [pathologyexpert.com]

  Factor VIII deficiency Hemorrhage, hematuria, hemarthroses. Prolonged PTT. Hemophilia B (Factor IX Deficiency) Hemophilia X-Linked Recessive. Factor IX deficiency. Milder than Hemophilia A. Hemorrhage, hematuria, hemarthroses. Prolonged PTT. [kumc.edu]

  Syndrome 10 Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14 Bare Lymphocyte Syndrome, Type I Bart Syndrome Barth syndrome Bartter Syndrome Bartter Syndrome, Antenatal, Type 1 Bartter Syndrome, Type 3 Beare-Stevenson Cutis Gyrata Syndrome Benign Familial Hematuria [sequencing.com]

• Occipital Encephalocele

  encephalocele-skeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Lethal osteosclerotic bone dysplasia Lethal recessive chondrodysplasia Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Leukoencephalopathy [se-atlas.de]

Treatment Treatment Options: None other than rehabilitation. [disorders.eyes.arizona.edu]

Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case report and review of the literature. Ultrasound Obstet Gynecol 1995; 6:368-71 9. Hadi HA, Strickland RT. [books.google.de]

[…] imperforate anus Genital organs Undescended testis (if treated) Hypospadias Indeterminate sex Urinary system Cystic kidney Absent kidney Ectopic kidney Double ureter/collecting system Vesico-ureteric reflux Musculo-skeletal system Talipes (requiring treatment [ww2.health.wa.gov.au]

Treatment: Remove fructose from diet. Galactosemia Carbohydrate Metabolism Defect Autosomal Recessive. [kumc.edu]

OPPG is characterized by congenital or infancy-onset blindness and extremely severe childhood-onset osteoporosis (lumbar spine Z-score often Few data are available on the treatment of osteoporosis in OPPG, however some beneficial response to bisphosphonates [iofbonehealth.org]

Osteogenesis Imperfecta Prognosis The prognosis for this condition varies greatly depending on the severity of symptoms. For children with mild symptoms, life expectancy is not impacted. [rainbowkids.com]

[…] tract (ambiguous genitalia and other serious malformations of the external genitalia, agenesis, hypoplasia and cystic renal dysplasia) congenital malformations of the central nervous system, cleft palate, congenital heart defects etc. growth retardation Prognosis [atlases.muni.cz]

Pulmonary hypoplasia is common which, together with kidney and liver disease, is responsible for the poor prognosis of most infants. [disorders.eyes.arizona.edu]

Thompson EM, Young ID, Hall CM, Pembrey ME (1987): Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 24:390405. 18: 394-398. [documents.mx]

[…] widely spaced nipples - Lung hypoplasia - Coarctation of the aorta with biscuspid aortic valve - Renal abnormalities - Increased risk of hypertension - Lymphedema of the hands and/or feet - Wide carrying angle - Streak gonads with infertility What is the prognosis [brainscape.com]

It is possible that environmental factors have contributed in the etiology of AMC in these cases. [jped.elsevier.es]

Etiology, pathogenesis incidence: 1 : 10 000 – 1 : 40 000 carriers (heterozygotes): up to every 30th individual in the population deficit of one of the enzymes for the cholesterol synthesis leads to its deficiency (disorders of cell membranes construction [atlases.muni.cz]

 Increasing public awreness about the risk factors and etiological factors of congenital anomalies and their preventive measures. [slideshare.net]

The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). [reference.md]

[…] chronic hypoxia-->cor pulmonale Feeding problems Airway obstruction Retinal detachement HEARING LOSS (what makes it Stickler Syndrome--AD) RAPSN gene IUGR Arthrogryposis Pulmonary hypoplasia Expressionless face CNS anomalies Polyhydramnios Uncertain etiology [quizlet.com]

Proteins - Phenylketonuria - Tyrosemia - Homocystinuria - Organic acid disorders - Urea cycle disorders Lipids - Fatty acid oxidation defects Organelle disorders - Congenital disorders of glycosylation - Mucopolysaccharidoses What is the underlying pathophysiology [brainscape.com]

Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119 : 880–890. 17. Janssens K, Vanhoenacker F, Bonduelle M, et al. [nature.com]

 Prospective genetic counseling: o It is for true prevention of disease o It aims at preventing or reducing heterozygous marriage by screening procedures and explaining the risk of affected children.  Retrospective genetic counseling: o It is done [slideshare.net]

Infection in the bones is a concern for children with osteogenesis imperfecta, and doctors prescribe antibiotics to treat or prevent infections. [rainbowkids.com]

The management of potentially preventable complications (joint dislocation, osteoarthritis, and scoliosis) is fundamental to ensure the quality of life of the patients. [jped.elsevier.es]

Classical homocystinuria: vascular risk and its prevention. J Inherit Metab Dis 2003; 26 : 259–265. 64. Salo AM, Cox H, Farndon P, et al. A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. [nature.com]