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Published in Samar Razaq, Difficult Cases in Primary Care, 2021
Pectus carinatum or pigeon chest is thought to be caused by defective growth of the costal cartilages at the junction of the ribs with the sternum. This is usually not associated with any functional defect. However, it may be a cause of psychological distress to the child and the parents. Parents should be reassured that the development of breasts and chest muscles will gradually make the chest appear more cosmetically acceptable. Some children, however, may complain of reduced exercise tolerance as a result of the deformity and hence lung function tests may be of use. Some centres promote the use of a chest brace; however, their usefulness is unclear. Severe cases may be treated with surgery. There is likely to be a high incidence of parental anxiety and it is usually appropriate to refer to a suitable specialist so that all the available options may be discussed. Pectus excavatum (funnel chest) is almost the opposite deformity, as the sternum is depressed.
Chest wall deformities
Published in Mark Davenport, James D. Geiger, Nigel J. Hall, Steven S. Rothenberg, Operative Pediatric Surgery, 2020
Robert E. Kelly, Marcelo Martinez-Ferro, Horacio Abramson
Specific signs and symptoms possibly associated to pectus carinatum need to be addressed; also, psychological and social impact must be evaluated. The physician will determine if the pectus carinatum is of the chondrogladiolar or chondomanubrial variant. Assessment of symmetry, rigidity of the chest wall, and pain is also mandatory.
Genitourinary and trunk
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Pectus carinatum is more common in males, with a family history in one-third; there is an association with scoliosis and heart disease (MVP) in 15%, as well as developmental conditions such as Noonan syndrome. The problem presents later in life than funnel chest, with one study reporting that half are found after about 10 years of age – it is mostly a cosmetic problem with only a minority with pulmonary problems. The mechanism seems to be related to overgrowth of the costal cartilages with displacement and buckling of the sternum.
Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1
Published in Immunological Investigations, 2022
Hossein Jafari Khamirani, Mehdi Dianatpour, Sina Zoghi, Sanaz Mohammadi, Ashkan Habib, Seyed Alireza Dastgheib, Seyed Mohammad Bagher Tabei, Mohadeseh Molayemat, Babak Shirazi Yeganeh
In the study by Haapaniemi et al., the patient was born to non-consanguineous parents at gestational age of 36 weeks with an uneventful pregnancy and delivery; however, with low weight of 2,270 g. In our study, the increased amniotic fluid index and a breech fetal presentation were noted, requiring C-section delivery. The proband’s weight was normal (2,800 g) and she was born at 38 weeks of gestational age. Both probands presented in this study and the study by Haapaniemi et al. experienced hyperbilirubinemia and required phototherapy (Table 3). Haapaniemi et al. also described hypoglycemia and omphalitis several days after birth, which were not recorded during the course of this study. The case reported by Haapaniemi et al. had several dysmorphic facial features, such as micrognathia, high-sloped forehead, low-set ear lobes, broad nasal bridge along with long slender fingers and nails, while the proband in this study did not show any dysmorphic facial or upper extremity features. Notably, both probands showed pectus carinatum.
Real food in enteral nutrition for chronically ill children: overview and practical clinical cases
Published in Current Medical Research and Opinion, 2022
Valeria Dipasquale, Antonella Diamanti, Chiara Maria Trovato, Domenica Elia, Claudio Romano
A 22-month-old girl was diagnosed with nemaline myopathy, which is caused by a homozygous missense truncating mutation in TNNT1. Her older sister had the same mutation and disease, and both parents had a single mutation of the gene. Progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformities, and failure to thrive manifested by the age of four months. For these reasons, she was admitted to the hospital at the age of 19 months and given a tracheostomy and a percutaneous endoscopic gastrostomy (PEG). She began to be ventilated mechanically 24 h a day. She was also started on a special diet consisting of blended natural food via PEG and nocturnal enteral nutrition consisting of 240 ml of a semi-elemental formula delivered at a rate of 30 ml/h for 8 h. No complications (i.e. gastrostomy tube obstruction, microbial contamination episodes) were observed with the use of blended natural food. The semi-elemental formula was not tolerated; thus, an amino acid-based formula was chosen instead.
Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease
Published in Expert Review of Cardiovascular Therapy, 2019
Yskert von Kodolitsch, Anthony Demolder, Evaldas Girdauskas, Harald Kaemmerer, Katharina Kornhuber, Laura Muino Mosquera, Shaine Morris, Enid Neptune, Reed Pyeritz, Svend Rand-Hendriksen, Alexander Rahman, Nina Riise, Leema Robert, Ingmar Staufenbiel, Katalin Szöcs, Thy Thy Vanem, Stephan J. Linke, Marina Vogler, Anji Yetman, Julie De Backer
Chest wall deformities such as scoliosis and pectus deformities are common with Marfan Syndrome often resulting in restrictive lung disease [172]. With severe restriction, thoracic insufficiency syndrome (TIS) develops punctuated by impaired ventilation and gas exchange [173]. In pediatric Marfan syndrome, lung growth is further compromised by these disorders directly impacting peak lung function attainment and accelerating the onset of TIS. Scoliosis is the most common spinal deformity in Marfan syndrome afflicting more than 60% of patients [174]. Up to one-half of affected persons require surgery for progression and/or associated respiratory compromise [175]. Pectus deformities, namely pectus excavatum and to a lesser degree pectus carinatum, are common congenital disorders that are highly represented in Marfan syndrome [176]. Most pectus deformities are mild and do not produce marked alterations in lung function. However, more severe pectus defects, especially when coupled to scoliosis, can cause clinically consequential restrictive disease [177]. Less invasive and more customizable surgical options (e.g., vertical expandable prosthetic titanium ribs (VEPTR) magnetic rods, or Nuss bars) for both scoliosis and pectus deformities are now employed early in disease development leading to fewer complications and lung function stabilization in selected patients [178–182]. As yet, no long-term studies documenting stability or improvement in lung function with these newer interventions in the Marfan population are available.