Crawford P, Appleton R, Betts T, et al. the Women with Epilepsy Guidelines Development Group. Best practice guidelines for the management of women with epilepsy. Seizure 1999;8(4):201-217. [ ] [sajch.org.za]

Best practice guidelines for the management of women with epilepsy. The Women with Epilepsy Guidelines Development Group. Seizure. 1999;8:201–217.[PubMed] [annsaudimed.net]

[…] and Neuropharmacology Group Leader Professor Terence O'Brien Medicine and Radiology Epilepsy and Precision Medicine Group Leader Professor Patrick Kwan Medicine and Radiology Epilepsy in twins: the importance of genetic factors Group Leader Professor [medicine.unimelb.edu.au]

Environmental causes of learning disability are being explored in a long term prospective follow-up study of children born to mothers with epilepsy and a control cohort. [research.bmh.manchester.ac.uk]

Homocystinuria Hydrancephaly Hydrocephalus Hypertrophic Intersitial Neuritis (Dejerine-Sottas Disease) Hypoglossia-Hypodactylia Spectrum Hypothyroidism (Untreated), Congenital Hypotonia, Congenital, NonBenign Form I Ichthyosis Congenita Infantile Spasms, Epilepsy [anybabycan.org]

Smith DW, Lemli L, Opitz JM: A newly recognized syndrome of multiple congenital anomalies; J Pediatr 1964; 64: 210-21 Brassier A, Ottolenghi C, Boddaert N, Sonigo P, Attié-Bitach T, Millischer-Bellaiche AE, Baujat G, Cormier-Daire V, Valayannopoulos V [kmuj.kmu.edu.pk]

A newly recognized syndrome of multiple congenital anomalies. J Pediatr 1964 ; 64 : 210 -7. 7. Kelley RI. [cmaj.ca]

A newly recognized syndrome of multiple congenital anomalies. J Pediatr 1964 ; 64 : 210 -217. Opitz JM. RSH/SLO (“Smith–Lemli–Opitz”) syndrome: historical, genetic, and developmental considerations. Am J Med Genet 1994 ; 50 : 344 -346. [clinchem.aaccjnls.org]

The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. J Med Genet 1986; 23 :64–71. 38. McGaughran J, Donnai D, Clayton P, Mills K. Diagnosis of Smith-Lemli-Opitz syndrome [letter]. [nature.com]

His clinical and research interests are in dysmorphology and multiple congenital anomalies, and he is an active participant at the David W. Smith Workshop and the unknowns session at the annual ACMG meeting. Dr. [fdna.com]

Pediatric Rehabilitation Allison Reimers, MSN, RN, CRRN 1130 – 1215 General Rehabilitation Hilary Touchett, MSN, RN, CRRN 1215 – 1300 Lunch Provided (includes Test Taking Information) Ann Gutierrez, MSN, RN, CRRN, CNRN, CBIS 1300 – 1415 Dysphagia/Communication [tirr.memorialhermann.org]

Extrapulmonary sequestrum Unsteady gait Infantile muscular hypotonia Dysmetria Microtia Progressive microcephaly Hypocalcemia Abnormality of immune system physiology IgG deficiency Prolonged partial thromboplastin time Generalized edema Anemia Nevus Dysphagia [mendelian.co]

An intensely erythematous, edematous and ulcerated gingiva may be accompanied by fever, malaise, headache, dysphagia, salivation, regional lymphadenitis and even life-threatening encephalitis. [bobbybukamd.com]

[…] lipodystrophy associated with PPARG mutations Saul Wilkes Stevenson syndrome Cartilage-hair hypoplasia Nguyen syndrome Glanzmann thrombasthenia Jacobsen syndrome 6-pyruvoyl-tetrahydropterin synthase deficiency Charcot-Marie-Tooth disease type 2B Odontoma dysphagia [checkrare.com]

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome Related symptoms: Autosomal recessive inheritance Hypertelorism Low-set ears Epicanthus Hepatomegaly SOURCES: MONDO OMIM More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Low match [mendelian.co]

Hou JW (2003): A boy with hepatomegaly, muscle hypertrophy and absence of adipose tissue. Berardinelli-Seip syndrome. Acta Paediatr Tw 44:189-190. Hou JW (2003): Wolf-Hirschhorn syndrome: clinical and molecular cytogenetic studies in Taiwan. [cgh.org.tw]

Section on children from conception to age three covers conditions such as cleft palate, disturbances in calcification, unusual numbers of teeth, oral habits, caries, and the development of malocclusions that start during these years. [books.google.com]

Over-retained teeth and delayed eruption of permanent teeth could hamper the normal growth and development of the jaw leading to malocclusion. [omicsonline.org]

Diastema and malocclusion may be present. Short stature (5 th percentile) is characteristic along with facial dysmorphology consisting of hypoplasia of the alae nasae, malar hypoplasia and slight up slanting of the palpebral fissures. [disorders.eyes.arizona.edu]

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]

[…] congenita Pseudo-Von Willebrand disease Mandibuloacral dysplasia with type B lipodystrophy Congenital muscular dystrophy type 1A Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Dextrocardia Peters plus syndrome Macroglossia [checkrare.com]

Oral examination showed hypodontia, microdontia, dental caries and partial anodontia [Figure 4]. The prominent mandible was seen. [ijo.in]

[…] syndrome Ichthyosis hystrix gravior Ichthyosis hystrix of Curth-Macklin Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Ichthyosis-hypotrichosis syndrome Ichthyosis-oral and digital anomalies syndrome Ichthyosis-prematurity syndrome [se-atlas.de]

Acne and Rosacea Photos Actinic Keratosis, Basal Cell Carcinoma and other Malignant Lesions Atopic Dermatitis Photos Bullous Disease Photos Cellulitis, Impetigo and other Bacterial Infections Eczema Photos Exanthems and Drug Eruptions Hair Loss Photos, Alopecia [dermnet.com]

[…] abnormalities Occular hypertelorism Pulmonic stenosis Abnormal genitalia Retarded growth Deafness Pachonychia Congenita (Jadassohn-Lewandowsky Syndrome) ADON HATS Autosomal dominant Oral white spong nevus Thickened nails Hyperkeratosis of palms and soles Alopecia [dermpathmd.com]

McPherson Clemens syndrome Malignant hyperthermia susceptibility type 3 Oslam syndrome L-arginine:glycine amidinotransferase deficiency Lin-Gettig syndrome Alopecia-intellectual disability syndrome Tabatznik syndrome Persistent Mullerian duct syndrome [checkrare.com]

Pulmonic stenosis Abnormal genitalia Retarded growth Deafness [Congenital and Inherited Diseases] Pachonychia Congenita (Jadassohn-Lewandowsky Syndrome) ADON HATS Autosomal dominant Oral white sprong nevus Thickened nails Hyperkeratosis of palms and soles Alopecia [quizlet.com]

Chapter on the diagnosis of oral lesions and developmental anomalies uses tables and extensive illustrations to depict developmental anomalies, white soft tissue lesions and enlargements, dark soft tissue lesions, ulcerative lesions, radiolucent lesions [books.google.com]

Top matches: Low match BURULI ULCER, SUSCEPTIBILITY TO Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. [mendelian.co]

This subtype is characterized by exuberant granulation tissue within ulcers especially in the ocular and perioral region with sparing of the lips. [bobbybukamd.com]

Nupur Agarwal, Puneet Gupta, Prashant Gupta, Shantala Naik, Nitin Upadhyay DOI :10.4103/0976-237X.95117 PMID :22629047 [ABSTRACT] [HTML Full text] [PDF] [Mobile Full text] [EPub] [Citations (2) ] [PubMed] [Sword Plugin for Repository] Beta Traumatic ulcerative [contempclindent.org]

The pseudo-ainhum cause pain, neurological defects, and vascular compromise with skin ulcerations from tissue ischemia. They may even cause decreased mobility of the hand. [clinicaladvisor.com]

[…] syndrome (Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag), LUMBAR syndrome (Lower body hemangioma and other cutaneous defects, Urogenital anomalies, ulceration, Myelopathy [bobbybukamd.com]

[…] gallbladder, enlarged liver), musculoskeletal manifestations (arthritis, arthralgia), irritability or lethargy, urethritis and sterile pyuria, and anterior uveitis. [bobbybukamd.com]