CRANIAL BONE VARIATIONS 217 Vertex Birth Molding 219 Vertex Craniotabes 226 Anterior Fontanelle Bone 230 Parietal Foramina 232 Aplasia Cutis Congenita 235 Cephalohematoma 240 Wormian Bones 245 ABNORMAL BIRTH PRESENTATION 249 Breech Presentation Deformation [books.google.com]

Slide 1 Everything You Need To Know About Content Marketing Hana Abaza, Director of Marketing at Uberflip @hanaabaza 1 WHY IT’S HOT Authoring – Create your content.… All About Beer PowerPoint Presentation Text Me: Do's & Don'ts of Presentation Design [docslide.net]

We present a sporadic case of lethal MPS presented at our institute. Case Report A 26-year-old G4P3L3A0 was referred to our hospital for USG detected multiple fetal malformations at 23 weeks of gestation. The patient had nonconsanguineous marriage. [jfmpc.com]

The variants are not present in dbSNP, 1000 GP, EVS Variant Server, while they are both present in the ExAc database with allele frequencies of 1.647e−05 and 2.48e−05, respectively. [peerj.com]

• Developmental Delay

  Global developmental delay Kyphoscoliosis Generalized hypotonia Myopia High myopia Onion bulb formation Wide nasal bridge Strabismus Visual impairment Cataract Megalocornea Areflexia Muscle weakness Distal sensory impairment Peripheral neuropathy Gait [mendelian.co]

  A syndromic form of AMC is suspected when developmental delays and/or other congenital anomalies are present, and such patients should be evaluated for CNS disorders and monitored for progressive neurologic symptoms. [merckmanuals.com]

  Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia- Speech Impairment- Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 [igenomix.es]

  The features of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can include developmental delay and growth failure. [ Read More ] [icdlist.com]

  delay-contractures syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Intermediate DEND syndrome Isaac syndrome Isolated focal cortical dysplasia Isolated focal cortical dysplasia type I Isolated focal cortical dysplasia [se-atlas.de]

• Candidiasis

  […] tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA Histidinemia Schwannomatosis Alagille syndrome Haim-Munk syndrome Papillon Lefevre syndrome Ichthyosis lamellar 2 Isolated growth hormone deficiency type 2 Candidiasis [checkrare.com]

• Failure to Thrive

  Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia ( Alkemade, 1969 ). [mendelian.co]

  Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly). [icdlist.com]

  […] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital pterygium Osteoporosis-pseudoglioma syndrome Hypomelanosis of Ito Porokeratosis [checkrare.com]

• Microstomia

  Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Dextrocardia Peters plus syndrome Macroglossia Acromelic frontonasal dysostosis Minicore myopathy, antenatal onset, with arthrogryposis Malignant hyperthermia Agnathia-microstomia-synotia [checkrare.com]

• Visual Impairment

  Severe visual impairment leading to visual loss has also been reported. [mendelian.co]

• Visual Impairment

  Severe visual impairment leading to visual loss has also been reported. [mendelian.co]

• Flexion Contracture

  […] and ulnar deviation of the fingers Type IIB - Distinctive facies, flexion and ulnar deviation of the fingers, vertical talus Type III (Gordon syndrome) - Cleft palate, finger contractures, clubfoot Type IV - Scoliosis, finger contractures Type V - Limited [emedicine.medscape.com]

  Hip and knee flexion, shoulder adduction, elbow extension, wrist and finger flexion contractures are common. 7 Joint fusion-synostosis or soft tissue contractures. Pterygiumskin webs in between joints. Muscle atrophy. [now.aapmr.org]

  Surgical intervention may also improve joint mobility and function. [48] Other positive prognostic factors for independent walking were active hips and knees, hip flexion contractures of less than 20 degrees and knee flexion contractures less than 15 [en.wikipedia.org]

  The pterygia are thick and extensive and produce the severe flexion contractures of multiple joints resulting in akinesia and preclude fetal movement. Long bones are undermodelled with normal length except for ulnar overgrowth. [fetalultrasound.com]

  contractures causing severe arthrogryposis and fetal akinesia. [merckmillipore.com]

• Hydrops Fetalis

  Hydrops fetalis. Hypoplasia of heart, lungs, gastrointestinal and genitourinary systems. Cardiac defects, diaphragmatic hernia, omphalocele. Eye malformations (congenital cataracts and corneal ulceration). [fetalultrasound.com]

  fetalis Hyper-IgE syndrome Hypochondroplasia Hypoglossia-hypodactyly (oromandibular limb hypogenesis) syndrome Hypohidrotic ectodermal dysplasia Hypomelanosis of Ito Hypophosphatasia Hypopituitarism I(1p), I(1q) syndrome Isodic(Yq) syndrome Incontinentia [searchworks.stanford.edu]

  Whereas hydrops fetalis and nuchal edema were earlier signs, thorax hypoplasia, polyhydramnios and IUGR can be found later in pregnancy. [bredagenetics.com]

• Hypertelorism

  The face is expressionless, with hypertelorism, telecanthus and poorly folded, small, and posteriorly angulated ears, and the mouth is small with micrognathia and high-arched palate. Cleft palate and cardiac defects may occur occasionally. [orpha.net]

  Other associated features include ocular hypertelorism, nuchal edema or cystic neck masses, loose skin, decreased muscle mass and hypoplastic lungs. Three variants are described (2): Bartsocas-Papas syndrome (lethal popliteal syndrome). [fetalultrasound.com]

  […] of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Generalized amyotrophy Diffuse skeletal muscle wasting Generalized muscle degeneration Muscle atrophy, generalized [ more ] 0003700 Hypertelorism [rarediseases.info.nih.gov]

  […] develops before adolescence, multiple joint contractures, and lumbar lordosis [17] Lethal multiple pterygium syndrome (OMIM 253290) [18] This is an autosomal recessive disorder characterized by early death, hydrops, cystic hygroma, dysmorphic facies (eg, hypertelorism [emedicine.medscape.com]

  […] syndrome, hypospadias-dysphagia syndrome, OpitzBBB/G syndrome, Opitz BBBG syndrome, Opitz-Frias syndrome, Opitz G syndrome, Opitz syndrome, hypertelorism with esophageal abnormalities and hypospadias Osteopetrosis ( 1 Files ) Disease name: Osteopetrosis [orphananesthesia.eu]

• Short Neck

  Many of these babies are born prematurely, and even when born at term their growth is delayed, they have a short neck and cryptorchidism. If they survive, they are likely to develop short-gut syndrome with malabsorption. [orpha.net]

  neck Decreased length of neck 0000470 Short palpebral fissure Short opening between the eyelids 0012745 Short umbilical cord 0001196 Slender long bone Long bones slender Thin long bones [ more ] 0003100 Small for gestational age Birth weight less than [rarediseases.info.nih.gov]

  neck, small chest, and hypoplastic lungs. [emedicine.medscape.com]

  Pulmonic stenosis Lumbar hyperlordosis Butterfly vertebrae Low-set, posteriorly rotated ears Microtia Smooth philtrum Rhizomelia Abnormal vertebral morphology Coxa valga Vertebral segmentation defect Failure to thrive in infancy Pierre-Robin sequence Broad neck [mendelian.co]

  The foetus had a cystic hygroma, a hydrothorax, a short neck, a kyphosis and a short trunk due to a scoliosis. The pregnancy was terminated at 23 + 3 weeks of gestation. On examination there was no evidence of intrauterine growth restriction. [actaneurocomms.biomedcentral.com]

• Global Developmental Delay

  Global developmental delay Kyphoscoliosis Generalized hypotonia Myopia High myopia Onion bulb formation Wide nasal bridge Strabismus Visual impairment Cataract Megalocornea Areflexia Muscle weakness Distal sensory impairment Peripheral neuropathy Gait [mendelian.co]

• Cryptorchidism

  Many of these babies are born prematurely, and even when born at term their growth is delayed, they have a short neck and cryptorchidism. If they survive, they are likely to develop short-gut syndrome with malabsorption. [orpha.net]

  Other abnormalities that rarely accompany arthrogryposis include microcephaly, cleft palate, cryptorchidism, and cardiac and urinary tract abnormalities; these findings raise suspicion for an underlying chromosomal defect or genetic syndrome. [merckmanuals.com]

  […] and hydronephrosis. [1] The lethal form of MPS (OMIM 253290) has a wide clinical spectrum of malformations such as webbing of skin (pterygia) of elbow, knee, neck, cystic hygroma, cleft lip/palate, rocker bottom feet deformity, pulmonary hypoplasia, cryptorchidism [jfmpc.com]

  Small lower jaw [ more ] 0000347 Multiple joint contractures 0002828 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory insufficiency Respiratory impairment 0002093 30%-79% of people have these symptoms Cleft palate 0000175 Cryptorchidism [rarediseases.info.nih.gov]

  These include the following: Adducted thumbs Bowen-Conradi syndrome C syndrome Syndrome of cloudy cornea, diaphragmatic defects, and distal limb deformities Syndrome of craniofacial and brain anomalies and intrauterine growth retardation Syndrome of cryptorchidism [emedicine.medscape.com]

Focused on treatment: key points boxes pick out the most important information for the busy specialist. Evidence-based information: extensively referenced with the latest and most important papers and articles. [books.google.com]

Alsiddiky Medicine European review for medical and pharmacological sciences 2015 Although new technologies have improved the treatment of children with EOS but it continues to be challenging with high complication rates, new treatment techniques based [semanticscholar.org]

Treatment - Fetal akinesia syndrome X-linked Not supplied. Resources - Fetal akinesia syndrome X-linked Not supplied. [checkorphan.org]

Drug interactions with treatment: colchicine, thalidomide, corticosteroids, immunosuppressants. References : - Salihoglu Z, Dikmen Y, Demiroluk S, Hamzaoglu I, Paksoy M. [sites.uclouvain.be]

[ edit ] The treatment of arthrogryposis includes occupational therapy, physical therapy, splinting and surgery. [3] The primary long-term goals of these treatments are increasing joint mobility, muscle strength and the development of adaptive use patterns [en.wikipedia.org]

Ovulation Tests o Home Fertility Tests o Home Rhesus/RH Blood Type Tests o Home Fetal Tests * Fertility-related Home Testing: o Home Ovulation Tests o Home Fertility Tests * Male Fertility Tests o Home Sperm Tests o Sperm Count Tests o Sperm Motility Tests Prognosis [checkorphan.org]

Prognosis The main point to remember is that AMC is not a progressive disorder. [nationwidechildrens.org]

The perinatal mortality for some of the underlying conditions is as high as 32%, so establishing a specific diagnosis is important for prognosis and genetic counseling. [merckmanuals.com]

Prognosis [ edit ] People with AMC look their worst at birth. AMC is considered non-progressive, so with proper medical treatment, things can improve. The joint contractures that are present will not get worse than they are at the time of birth. [en.wikipedia.org]

Identification of the underlying genetic cause of FADS/MPS facilitates clinical management by providing (a) precise genetic diagnosis, (b) enabling accurate predictions of recurrence risk and prognosis and (c) allowing the possibility of prenatal diagnosis [actaneurocomms.biomedcentral.com]

Etiology The Pena-Shokeir syndrome is not a unitary entity but is etiologically heterogeneous. Maternal myasthenia gravis has been diagnosed in some cases, and experiments in animal models show that curarization of the mother induces fetal akinesia. [orpha.net]

The etiology of arthrogryposis (multiple congenital contracture). Clin Orthop Relat Res. 1985;(194):15-29. Kowalczyk B, Feluś J. Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies. Arch Med Sci. 2016 Feb 1;12(1):10-24. [now.aapmr.org]

Arthrogryposis (Multiple Congenital Contractures): Diagnostic Approach to Etiology, Classification, Genetics, and General Principles. Eur J Med Genet 2014;57:464-472. Filges I, Hall JG. [rarediseases.org]

[…] cryptorchidism, joint contractures, fetal akinesia, cardiac defects, kyphoscoliosis, fetal growth restriction, and intestinal malrotation. [1], [2] The mode of inheritance can be either autosomal recessive, autosomal dominant, or X-linked dominant. [1] The exact etiology [jfmpc.com]

References Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, et al: Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest 126:762-778 (2016). [karger.com]

Summary Epidemiology The syndrome is rare: about 100 cases have been described in the literature. About 30% are stillborn, and the majority of those live-born die of the complications of pulmonary hypoplasia. [orpha.net]

"Arthrogryposis multiplexa congenita: An epidemiologic study of nearly 9 million births in 24 EUROCAT registers". European Journal of Obstetrics & Gynecology and Reproductive Biology. 159 (2): 347–50. doi : 10.1016/j.ejogrb.2011.09.027. [en.wikipedia.org]

Epidemiology including risk factors and primary prevention Arthrogryposis occurs from 1/3000 to 1/5000 live births. 2,3 Males and females are equally affected. [now.aapmr.org]

The Pathophysiology has not yet been established, but one theory postulates that the manifestations are due to a genetically determined insult that causes both a fetal akinesia sequence and jugular lymphatic obstruction sequence. [fetalultrasound.com]

Patho-anatomy/physiology The pathophysiology is related to the specific type of arthrogryposis. Exact mechanisms are not well understood in some subtypes of arthrogryposis. [now.aapmr.org]

For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]

Prevention - Fetal akinesia syndrome X-linked Not supplied. [checkorphan.org]

Epidemiology including risk factors and primary prevention Arthrogryposis occurs from 1/3000 to 1/5000 live births. 2,3 Males and females are equally affected. [now.aapmr.org]

These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. [icdlist.com]

Introduction Recognizable fetal ultrasound (US) abnormalities are observed in approximately 3–5% of all pregnancies, while congenital abnormalities account for 20–25% of perinatal deaths ( Centers for Disease Control and Prevention, 2008 ; Romosan et [peerj.com]