scholarly journals Neonatal diagnosis of Marcus Gunn jaw‐winking syndrome

2020 ◽  
Author(s):  
Daniela David ◽  
Valentina Chiavaroli ◽  
Modesto Lanci ◽  
Laura Sabatini ◽  
Silvia Greco ◽  
...  
Keyword(s):  
Neonatal Diagnosis

Use of polimerase chain reaction for neonatal diagnosis of human immunodeficiency virus type 1 (HIV-1) perinatal infection

1994 ◽  
Vol 70 (6) ◽  
Author(s):  
Marisa Márcia Mussi-Pinhata ◽  
Maria Célia C. Ferez ◽  
Dimas T. Covas ◽  
Geraldo Duarte ◽  
Márcia L. Isaac ◽  
...  
Keyword(s):  
Human Immunodeficiency Virus ◽  
Human Immunodeficiency Virus Type ◽  
Virus Type ◽  
Perinatal Infection ◽  
Chain Reaction ◽  
Neonatal Diagnosis ◽  
Immunodeficiency Virus ◽  
Hiv 1

Umbilical Morphology: Normal Values for Neonatal Periumbilical Skin Length

PEDIATRICS ◽  
1992 ◽  
Vol 90 (1) ◽  
pp. 47-49
Author(s):  
Aengus S. O'Marcaigh ◽  
Lora B. Folz ◽  
Virginia V. Michels
Keyword(s):  
Regression Analysis ◽  
Birth Weight ◽  
Gestational Age ◽  
Normal Values ◽  
The Other ◽  
Male And Female ◽  
Rieger Syndrome ◽  
Neonatal Diagnosis ◽  
Robinow Syndrome ◽  
Aarskog Syndrome

Malformations of the umbilicus are a feature of many dysmorphic syndromes including Rieger syndrome, Robinow syndrome, and Aarskog syndrome. The characteristic umbilical malformation in Rieger syndrome consists of redundant periumbilical skin which extends along the cord for an excessive distance. Although the measurement of umbilical skin length plays an important role in the neonatal diagnosis of Rieger syndrome, normal values for this measurement in healthy neonates have not been established. Umbilical skin length was measured in 104 healthy neonates. The length to which the umbilical skin extended along the cranial aspect of cord (mean 11.53 mm, SD 3.58) was significantly longer than the umbilical skin length along the caudal aspect (mean 8.71 mm, SD 2.89) (P < .05). Multiple regression analysis revealed a significant association between age and umbilical skin length. Birth weight, length, and gestational age were not significantly associated with umbilical skin length when adjusted for the other three variables. No significant differences in umbilical skin length were observed between male and female groups. The above normal values should aid in the neonatal diagnosis of Rieger syndrome, and furthermore it is recommended that cranial umbilical skin length measurement be included in the examination of the dysmorphic child.

scholarly journals SEPSIS NEONATAL PADA KASUS DEFEK SEPTUM VENTRIKEL

2013 ◽  
Vol 4 (3) ◽  
Author(s):  
Loretta C. Wangko ◽  
Erling D. Kaunang
Keyword(s):  
Neonatal Sepsis ◽  
Septal Defect ◽  
Signs And Symptoms ◽  
Clinical Syndrome ◽  
Neonatal Diagnosis ◽  
Early Use ◽  
Chest X Ray ◽  
Second Year ◽  
Pneumonia Diagnosis ◽  
Main Factor

Abstract: Neonatal sepsis is a clinical syndrome characterized by signs and symptoms of infection, with or without bacteriemia, that occurs in the first month of life. Neonatal sepsis is still a main factor of morbidity and mortality in newborns. We reported a case of a male newborn with septic risks: viscous amniotic fluid with a bad odour, maternal intrapartum fever (≥380C), urinary tract infection, and fluor albus. A chest x-ray showed some infiltration in the left paracardial region and a normal heart; and was interpreted to be pneumonia. A working diagnosis was an aterm neonatus with neonatal sepsis and neonatal pneumonia. Ventricle septal defect (VSD) without congestive heart signs was diagnosed by using an echocardiography. The patient was treated for a neonatal sepsis and given antibiotics from the first day of admission due to the neonatal septic signs. During observation, the patient was getting better, and his activities and reflexes improved without dyspnea. Conclusion: Based on all the tests performed, the diagnosis of this patient was neonatal sepsis, VSD, and pneumonia neonatal. The prognosis related to neonatal pneumonia in this case was good due to the early use of antibiotics. The prognosis of a small perimembrane VSD is dubia ad bonam because in 50% of cases it can spontaneously oclude in the second year. Keywords: newborn, sepsis, pneumonia, ventricle septal defect.   Abstrak: Sepsis neonatal ialah suatu sindrom klinis yang ditandai oleh gejala dan tanda-tanda infeksi dengan atau tanpa diikuti oleh bakteremia yang terjadi pada bulan pertama kehidupan. Sepsis neonatal masih merupakan penyebab utama morbiditas dan mortalitas pada bayi-bayi baru lahir. Kami melaporkan kasus bayi laki-laki baru lahir dengan resiko sepsis yaitu:cairan ketuban kental dan berbau busuk, demam intrapartum maternal (>38oC), infeksi saluran kencing, dan keputihan. X-foto toraks memperihatkan adanya infiltrat di parakardial kiri, jantung dalam batas normal, dan diinterpretasi sebagai pneumonia. Diagnosis kerja ialah neonatus cukup bulan, sepsis neonatal, dan pneumonia neonatal. Diagnosis defek septum ventrikel (DSV) ditegakkan melalui ekokardiografi tanpa tanda-tanda gagal jantung kongestif. Pasien diberikan penanganan sepsis dan pemberian terapi antibiotik empiris sejak hari pertama perawatan karena secara klinis telah ditemukan tanda-tanda sepsis neonatal. Selama observasi, pasien memperlihatkan perbaikan yang nyata dimana aktivitas dan refleks membaik tanpa disertai sesak napas. Simpulan: Berdasarkan hasil pemeriksaan yang dilakukan, diagnosis yang ditegakkan ialah sepsis neonatal disertai DSV dan pneumonia neonatal. Prognosis pneumonia neonatal kasus ini baik oleh karena pemakaian antibiotika sejak dini. Prognosis DSV kecil perimembran ialah dubia ad bonam karena 50% dapat menutup spontan pada usia dua tahun. Kata kunci: bayi baru lahir, sepsis, pneumonia, defek septum ventrikel.

Neonatal Diagnosis of Familial Dysautonomia

PEDIATRICS ◽  
1979 ◽  
Vol 63 (2) ◽  
pp. 238-241 ◽  
Author(s):  
Max Perlman ◽  
Sam Benady ◽  
Ephraim Saggi
Keyword(s):  
Neonatal Period ◽  
Incidental Finding ◽  
Familial Dysautonomia ◽  
Bile Pigment ◽  
Limited Data ◽  
Fetal Diagnosis ◽  
Neonatal Diagnosis ◽  
Altered State Of Consciousness ◽  
Prognostic Implications ◽  
And Behavior

The serious prognostic implications of familial dysautonomia (FD) for the affected individual and his family make early definitive diagnosis mandatory. Familial dysautonomia has rarely been diagnosed in the neonatal period in hitherto unaffected families. We describe here three such newborn patients to reinforce the limited data available on this subject. In spite of the variability of expression and the incompleteness of the manifestations of FD in the neonatal period, as well as the presence of a number of "dysautonomic" features in normal newborns, we believe that it is possible to establish a diagnosis of FD neonatally. We pay particular note to the altered state of consciousness and behavior in neonatal FD, the unusual posture and limb movements, and the swallowing disorder with tendency to neonatal aspiration. In addition, the incidental finding of bile pigment in the amniotic fluid of an affected fetus without hemolytic disease may hint at a possible approach to fetal diagnosis of this condition.

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