http://pediatrics.aappublications.org:80 This feed contains articles for Pediatrics Subject Collection "Genetics & Dysmorphology" Pediatrics http://pediatrics.aappublications.org:80 http://pediatrics.aappublications.org:80/cgi/content/short/124/5/1447?rss=1 OBJECTIVES: A subgroup of patients with infantile hemangiomas have associated structural anomalies of the brain, cerebral vasculature, eyes, sternum, and/or aorta in the neurocutaneous disorder known as PHACE syndrome. The diagnosis has been broadly inclusive by using a case definition of a facial hemangioma plus [≥]1 extracutaneous features, leading to numerous reports of potential associated disease features, many of uncertain significance. This consensus statement was thus developed to establish diagnostic criteria for PHACE syndrome. METHODS: A multidisciplinary group of specialists with expertise in PHACE syndrome drafted initial diagnostic criteria on the basis of review of published, peer-reviewed medical literature and clinical experience. The group then convened in both executive and general sessions during the PHACE Syndrome Research Conference held in November 2008 for discussion and used a consensus method. All conflicting recommendations were subsequently reconciled via electronic communication and teleconferencing. RESULTS: These criteria were stratified into 2 categories: (1) PHACE syndrome or (2) possible PHACE syndrome. Major and minor criteria were determined for the following organ systems: cerebrovascular, structural brain, cardiovascular, ocular, and ventral/midline. Definite PHACE requires the presence of a characteristic segmental hemangioma or hemangioma >5 cm on the face or scalp plus 1 major criterion or 2 minor criteria. Possible PHACE requires the presence of a hemangioma >5 cm on the face or scalp plus 1 minor criterion. The group recognized that it may be possible to have PHACE syndrome with a hemangioma affecting the neck, chest, or arm only or no cutaneous hemangioma at all. In such cases, fulfillment of additional required criteria would also lead to a possible PHACE diagnosis. CONCLUSIONS: These criteria represent current knowledge and are expected to enhance future assessments of PHACE syndrome. It is understood that modifications are to be expected over time to incorporate new research findings. Metry, D. Heyer, G. Hess, C. Garzon, M. Haggstrom, A. Frommelt, P. Adams, D. Siegel, D. Hall, K. Powell, J. Frieden, I. Drolet, B. 2009-11-01 doi:10.1542/peds.2009-0082 Consensus Statement on Diagnostic Criteria for PHACE Syndrome American Academy of Pediatrics 5 124 1456 1447 2009-11-01 SPECIAL ARTICLES http://pediatrics.aappublications.org:80/cgi/content/short/30/10/e78?rss=1 Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD): The New Horizon For Children Who Have DPKD. Rizk D, Chapman A. Pediatr Nephrol. 2008;23 :1029 -1036 Autosomal Recessive Polycystic Kidney Disease. Zerres K. Clin Investig. 1992;70 :794 -801 Familial Juvenile Nephronophthisis. Konrad M, Saunier S, Calado J, et al. J Mol Med. 1998;76 :310 -316 ... Benun, J. Lewis, C. Serwint, J. R. 2009-10-01 doi:10.1542/pir.30-10-e78 Polycystic Kidney Disease American Academy of Pediatrics 10 30 79 78 2009-10-01 INTERNET-ONLY ARTICLE http://pediatrics.aappublications.org:80/cgi/content/short/10/10/e502?rss=1 Asymmetric crying facies (ACF) refers to a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. It is a minor anomaly found in 1 per 160 live births and is caused by hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) or compression of one of the branches of the facial nerve. Associated major and minor malformations as well as deformations have been described. The risk of associated major anomalies with ACF is 3.5-fold higher compared with the general population. Such anomalies are most common in the cardiovascular system and cervicofacial region. Certain clinical signs may differentiate ACF from true facial paralysis. Physical findings, electromyography, and ultrasonography studies can help differentiate between the two causes of ACF. An approach to the diagnostic evaluation is suggested, both for initial evaluation and for decisions about subsequent treatment of ACF. Shapira, M. Borochowitz, Z. U. 2009-10-01 doi:10.1542/neo.10-10-e502 Asymmetric Crying Facies American Academy of Pediatrics 10 10 509 502 2009-10-01 ARTICLES http://pediatrics.aappublications.org:80/cgi/content/short/10/10/e510?rss=1 Case Presentation Case Presentation Case Discussion Suggested Reading A term infant girl is born via vacuum-assisted vaginal delivery to a 28-year-old G1P0, now P1, rubella-nonimmune woman who has otherwise unremarkable serology results. Membranes ruptured approximately 6 hours prior to delivery and Apgar scores are 6 and 8 at 1 and 5 minutes, respectively. She is admitted to the neonatal intensive care unit at 35 hours of age for desaturations to 80% on room air associated with bottle feeding. She has a weak cry at birth for which supplemental blow-by oxygen is administered briefly. Subsequently, she has adequate oxygen saturations and is transferred to the mother when desaturations recur with feeding attempts. A nasogastric (NG) tube is placed without difficulty. Chest ... Smith, H. Vachharajani, A. 2009-10-01 doi:10.1542/neo.10-10-e510 Index of Suspicion in the Nursery American Academy of Pediatrics 10 10 511 510 2009-10-01 ARTICLES http://pediatrics.aappublications.org:80/cgi/content/short/124/4/e573?rss=1 OBJECTIVES: To investigate parental expectations of a prenatal consultation with a neonatologist for a prenatally diagnosed congenital anomaly, to identify parents' values and unmet needs, and to obtain recommendations for improving physician-parent communication in a prenatal consultation. METHODS: Parents referred to neonatology for prenatal consultation after the diagnosis of a congenital anomaly. Completed 2 qualitative interviews: the first within 1 week of the consultation and the second 1 week after delivery. Interviews were analyzed for themes by using the constant comparative method associated with the grounded theory method. RESULTS: Thematic saturation was achieved after 42 interviews (22 women); only mothers participated. Five main themes emerged: (1) preparation; (2) knowledgeable physician; (3) caring providers; (4) allowing hope; and (5) time. Mothers believed that a consultation with a neonatologist helped them prepare for the perinatal course. They wished to know the management plan and all possible outcomes. Mothers wanted information specific to their situation and tailored to their knowledge base. Receiving conflicting information from physicians increased anxiety and eroded confidence. Seeing the NICU during the consultation was emotionally difficult but valuable. Mothers wanted realistic information, regardless of how grim, yet wanted to retain hope. All mothers would recommend a prenatal consultation with a neonatologist. CONCLUSIONS: Mothers perceived that a consultation with a neonatologist, which included a NICU tour, prepared them for the perinatal course. Parents want realistic medical information, specific to their situation, provided in an empathetic manner and want to be allowed to hope for the best possible outcome. Miquel-Verges, F. Woods, S. L. Aucott, S. W. Boss, R. D. Sulpar, L. J. Donohue, P. K. 2009-10-01 doi:10.1542/peds.2008-2865 Prenatal Consultation With a Neonatologist for Congenital Anomalies: Parental Perceptions American Academy of Pediatrics 4 124 579 573 2009-10-01 ARTICLES http://pediatrics.aappublications.org:80/cgi/content/short/124/4/e751?rss=1 CONTEXT: Many parents of children with Down syndrome (DS) have expressed dissatisfaction with how they learned about their child's diagnosis. DS remains the most common chromosomal condition, occurring in 1 of every 733 births, with the majority of children still diagnosed postnatally. OBJECTIVE: Our goal was to review systematically all available evidence regarding how physicians should approach the conversation in which they explain DS for the first time to new parents. METHODS: We searched online databases from 1960 to 2008, including Medline and PsychInfo, as well as Web sites maintained by academic organizations (eg, American Academy of Pediatrics) and other nonprofit or private organizations (eg, the National Down Syndrome Society), by using the terms "Down syndrome," "trisomy 21," "mongolism," "prenatal diagnosis," "postnatal care," and "delivery of health care." Articles were selected that answered [≥]1 research question, established a priori: (1) Who is the best person to communicate the news? (2) When is the best time to share the news? (3) Where is the best place or setting to deliver the news? (4) What information should be delivered? and (5) How should the news be communicated? All studies were evaluated for quality according to the method outlined by the US Preventative Services Task Force. Final recommendations were based on the strength of evidence. RESULTS: Parents prefer to receive the diagnosis together in a joint meeting with their obstetrician and pediatrician. The conversation should take place in a private setting as soon as a physician suspects a diagnosis of DS. Accurate and up-to-date information should be conveyed, including information about local support groups and resources. CONCLUSION: By implementing a few cost-neutral measures, physicians can deliver a postnatal diagnosis of DS in a manner that will be deemed by new parents as sensitive and appropriate. Skotko, B. G. Capone, G. T. Kishnani, P. S. for the Down Syndrome Diagnosis Study Group, 2009-10-01 doi:10.1542/peds.2009-0480 Postnatal Diagnosis of Down Syndrome: Synthesis of the Evidence on How Best to Deliver the News American Academy of Pediatrics 4 124 758 751 2009-10-01 ARTICLES http://pediatrics.aappublications.org:80/cgi/content/short/124/4/e807?rss=1 Current recommendations on predictive genetic testing for conditions in children that manifest later in life without the availability of curative treatment seem to favor the autonomy of the child (ie, waiting until the child is old enough to make the decision for himself or herself).1-3 In their article, Tarini et al4 analyzed the responses from 1342 parents who participated in the survey (response rate: 71%). They used amyotrophic lateral sclerosis as an example of an incurable disease. One third of the parents definitely wanted to know the diagnosis, another 30% were leaning toward testing, and only one third were not interested in early diagnosis. Many academic institutions do not perform testing for such diseases on children because treatment is not indicated until the di ... Trott, A. A. Matalon, R. 2009-10-01 doi:10.1542/peds.2009-1498 When Should Children Be Tested for Genetic Diseases? American Academy of Pediatrics 4 124 808 807 2009-10-01 COMMENTARIES http://pediatrics.aappublications.org:80/cgi/content/short/30/9/e66?rss=1 Objectives Objectives Introduction Differentiating Central Versus... Clinical Aspects Specific Disorders Laboratory Evaluation Radiologic Evaluation Other Diagnostic Considerations Treatment Suggested Reading After completing this article, readers should be able to: Characterize the distinguishing features of hypotonia and muscle weakness. Describe the differences between central and peripheral causes of hypotonia. Generate a differential diagnosis of hypotonia in infants. Discuss the appropriate medical and genetic evaluation of hypotonia in infants. Understand the need to suspect infant botulism in an inf ... Peredo, D. E. Hannibal, M. C. 2009-09-01 doi:10.1542/pir.30-9-e66 The Floppy Infant: Evaluation of Hypotonia American Academy of Pediatrics 9 30 76 66 2009-09-01 INTERNET-ONLY ARTICLE http://pediatrics.aappublications.org:80/cgi/content/short/30/9/357?rss=1 Case 1 Presentation Case 1 Presentation Case 2 Presentation Case 3 Presentation Case 4 Presentation Case 1 Discussion Case 2 Discussion Case 3 Discussion Footnotes Case 4 Discussion A 15-year-old boy presents with pain, swelling, and limited movement of his right elbow for 4 days. He denies other joint involvement, trauma, headache, diarrhea, visual disturbances, or dysuria but has experienced night sweats. He had streptococcal pharyngitis and a mononucleosis-like illness 3 months ago. He has no pets, and his only travel occurred more than 1 year ago when he visited Mexico. He is not sexually active. Naproxen helped initially, but his symptoms have worsened. Physical examination reveals ... Reirden, D. H. Menchise, A. N. Knox, B. Gereige, R. Howard, T. Thomas, E. L. Connelly, R. Tyler, S. McPeak, K. 2009-09-01 doi:10.1542/pir.30-9-357 Index of Suspicion American Academy of Pediatrics 9 30 363 357 2009-09-01 ARTICLES http://pediatrics.aappublications.org:80/cgi/content/short/30/8/302?rss=1 Objectives Objectives Introduction Genetics and Epidemiology Diagnosis Lung Disease Pulmonary Therapies Pancreatic Disease Intestinal Disease Hepatobiliary Disease Upper Airway Disease Fertility Issues Prognosis Conclusion Suggested Reading After completing this article, readers should be able to: Describe the underlying genetic disruption that leads to the pathophysiologic changes seen in cystic fibrosis (CF). Interpret newborn screening results and other tests used to diagnose CF. Recognize the complications that may arise in various organ systems of p ... Montgomery, G. S. Howenstine, M. 2009-08-01 doi:10.1542/pir.30-8-302 Cystic Fibrosis American Academy of Pediatrics 8 30 310 302 2009-08-01 ARTICLES