Marfanoid Body Habitus Research Articles

Spine deformity surgery in patients with Beals syndrome can be effectively performed but does risk revision surgery.

Beals syndrome or congenital contractual arachnodactyly is a rare disorder characterized by multiple joint contractures, Marfanoid body habitus and crumpled ears and has been associated with scoliosis. This study reports a clinical series of patients with Beals syndrome who have had surgical treatment for their spinal deformity. A retrospective review of all patients at a single institution who had a genetically-confirmed diagnosis of Beals syndrome and had surgical treatment for their scoliosis were reviewed for surgical outcome and complications. There were eight patients who had surgery at an average age of 11.5years, four were female and four had cardiovascular abnormalities requiring treatment. The preoperative coronal Cobb was 82.3° which improved to 42.1°(46.8% correction), and 46.5° (43.5% correction) at final follow-up. Preoperative halo-gravity-traction was used in three patients. Three patients had a posterior instrumentation and fusion (PSFI), 2 a combined anterior/PSFI, 1 had tethering, 1 with PSFI with posteriorly-approached discectomy, and 1 with a PSFI and vertebral column resection. One of the eight patients had a critical intraoperative neuromonitoring event but was normal following appropriate responses and no patient awoke with neurologic deficits. Two had an unplanned return to the operating room for implant dislodgement and each had a successful revision. Scoliosis associated with Beals syndrome can have large curves at the time of surgery and require a variety of surgical approaches to achieve a good result. Revision surgery with return to the operating room is necessary in 25% of patients.

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.

Biallelic mutations in UBE3B cause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestations. In this study, we employed genetic analyses including homozygosity mapping, candidate gene sequencing, whole exome sequencing, and confirmatory Sanger sequencing on eight patients from three unrelated consanguineous families. Our analysis yielded three different novel variants in UBE3B : a missense substitution [NM_130466.4: c.2975C>T; (p.Pro992Leu)] in the HECT domain in family 1, a 3-bp deletion within exon 14 [c.1692_1694delCTC; (p.Ser565del)] leading to removal of a serine residue in family 2, and a splice donor site variant in intron eight of UBE3B (c.630 + 1G>T) in family 3. Blepharophimosis, telecanthus, ptosis, intellectual disability and abnormal lipid profile were similar to those found in previously reported KOS patients. Longitudinal follow-up revealed rather marfanoid body habitus of the patients in family 1. This study reports eight patients from Saudi Arabia with novel deleterious variants in UBE3B and adds to the phenotypic spectrum of KOS.

FRI213 Multiple Endocrine Neoplasia Syndromes: A Rare Case With Variable Presentation

Abstract Disclosure: D.J. Gomez D' Aza: None. M. Kasap: None. T. Zahedi: None. F. Zhang: None. Introduction: Multiple endocrine neoplasia (MEN) syndromes are rare autosomal dominant inherited groups of disorders characterized by the presence of two or more primary endocrine glands tumors. MEN type 1 is usually associated with neoplastic lesions of the pituitary gland, the parathyroid gland, and the pancreas. MEN type 2 typically presents with overgrowth of parathyroid, adrenal glands (pheochromocytoma), and parathyroid hyperplasia (MEN 2A), Marfanoid body habitus, or mucosal neuromas (MEN 2B). It can also manifest with non-endocrine tumors including carcinoid tumors, adrenocortical tumors, meningiomas, facial angiofibromas, collagenomas, lipomas, and germline mutations (MEN type 4). It is extremely rare for MEN type 1 syndrome to have concomitant pheochromocytoma. Case Report: We present a case of a 69 yo female with multiple comorbidities who was hospitalized for heart failure exacerbation. CT scan showed incidental findings of a 4.1 cm right adrenal nodule, a 2.1 cm left anterior mediastinum nodule, and a 1.1 cm oval pituitary mass. She had multiple episodes of hypertension urgency during the last two years. After patient recovered to her base line, workup labs revealed elevated serum Catecholamine with Metanephrine 431.1 pg/mL, Normetanephrine 466.5 pg/mL, Norepinephrine 137 pg/mL, and high PTH 258 pg/mL. Further study was normal for pituitary function tests, aldosterone, renin, cortisol, thyroid, and renal function. PET scan showed mild hypermetabolic activity in bilateral adrenal glands without any abnormal hypermetabolic activity in the chest. Thyroid Ultrasound identified a 1 cm thyroid nodule. Phenoxybenzamine was started due to concern for pheochromocytoma. Patient was monitored closely since she declined surgical intervention. Discussion: MEN syndromes have variable clinical presentation with multiple hormone excess. This patient has imaging and laboratory findings highly suggestive of MEN syndrome with pituitary adenoma, pheochromocytoma, and hyperparathyroidism. Further work up and genetic testing would be helpful to identify the mutation of MEN type 1 or type 2. Clinicians should be aware of the variable presentation of MEN syndrome, and prompt treatment is warranted to prevent life-threatening conditions. Presentation: Friday, June 16, 2023

A case report on a rare combination of Gitelman syndrome and marfanoid body habitus in a young female

No abstract available

How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination-Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus.

Marfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical spectrum, the diagnosis of MFS still remains sophisticated. The aim of the study was to determine if there exist phenotypic features that can play the role of “red flags” in cases of MFS suspicion. The study population included 306 patients (199 children and 107 adults) who were referred to the Department of Pediatric Cardiology due to suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 109 patients and marfanoid habitus in 168 patients. The study excluded 29 patients with other hereditary thoracic aneurysm syndromes. Comparative analysis between patients with Marfan syndrome and marfanoid habitus was performed. Symptoms with high prevalence and high positive likelihood ratio were identified (pectus carinatum, reduced elbow extension, hindfoot deformity, gothic palate, downslanting palpebral fissures, lens subluxation, myopia ≥ 3 dioptres remarkably high stature). The differentiation between patients with MFS and marfanoid body habitus is not possible by only assessing external body features; however, “red flags” could be helpful in the screening phase.

P063 Loeys-Dietz syndrome presenting with inflammatory bowel disease symptoms

BACKGROUND: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder of connective tissue caused by mutations in the genes encoding receptor subunits for TGFβ, TGFBR1 and TGFBR2. It is characterized by arterial aneurysms and dissections, skeletal abnormalities, joint laxity and craniofacial abnormalities. There is an increased risk of immunologic diseases including allergic and eosinophilic gastrointestinal disorders, as well as inflammatory bowel disease (IBD). TGF-β signaling plays an important role in regulating mucosal immune responses likely leading to increased propensity for development of IBD. This case highlights a rare presentation of LDS, with symptoms of IBD presenting in advance of cardiac symptoms, leading to diagnosis of this rare connective tissue disorder. CASE: A 14 yo Male presented with 1 year of intermittent bloody stools, diarrhea and fatigue. Physical exam was only positive for a bifid uvula and marfanoid body habitus. Laboratory testing showed microcytic anemia, elevated C-reactive protein, erythrocyte sedimentation rate, and hypoalbuminemia. Stool tests were negative for infectious causes of diarrhea. Esophagogastroduodenoscopy and colonoscopy showed gross findings of duodenal ulcer and mucosal ulceration throughout the colon. Histology showed chronic focal active duodenitis with intramucosal granuloma, and chronic active pancolitis. No eosinophils were observed. Findings were thought to be consistent with diagnosis of IBD, so patient was initially treated with Mesalamine and Prednisone. After treatment failure, therapy was switched to infliximab plus oral methotrexate, and responded well, clinically. Approximately 6 months after diagnosis of IBD, the patient developed chest pain, tachycardia, and shortness of breath. Due to new elevation of CRP and ESR, there was a suspicion for myocarditis. Echocardiogram, however, showed bicuspid aortic valve with dilated aortic root. Given this finding, the cardiologists suspected a collagen disorder and subsequently started patient on Losartan. After being seen by Genetics, a next generation sequencing panel demonstrated mutation of the TGFBR2 (p.C61Y) gene. He was diagnosed with LDS. Three years after diagnosis, patient has remained in deep remission of his IBD with combination of infliximab and methotrexate. One year after diagnosis of LDS, the patient’s aortic root dilation reached critical limits and he successfully underwent ascending aortic graft and aortic root replacement with On-X 25 valve. He tolerated this procedure well and remains on lifelong anticoagulation therapy. DISCUSSION: It is thought that patients with LDS are 10 times more likely to have IBD than the general population. However, the occurrence of non-eosinophilic chronic IBD in patients with LDS has been reported but has been poorly documented. Typical cases of LDS described in literature present with eosinophilic gastrointestinal disorders, food allergies and rarely IBD. Typically, cardiac and skeletal disorders precede the GI manifestations. Our case is remarkable in that the patient first diagnosed with IBD and then later presented with cardiac symptoms finally leading to diagnosis of LDS. Currently, there is no established protocol for the evaluation and management of IBD in LDS patients. This case highlights life-threatening aortic or cardiovascular conditions linked with LDS. As such, a low index of suspicion is needed when managing IBD in patients with features suggestive of LDS.

A case series of Pyridoxine Resistant Classical Homocystinuria

Homocystinuria is an autosomal recessive disorder with the prevalence of 1;200000. It is due to the defect in the Methionine metabolism which results in accumulation of Homocysteine in the body. We report a series of patients with Homocystinuria followed up at university paediatric clinic Teaching Hospital Karapitiya. There were four children with Homocystinuria from 7 to 18 years, of them, 2 were males. None of them were born to consanguineous parents and two were siblings. The age at diagnosis ranged between 6 to 17 years. All children had delayed cognitive development with the IQ level between 40-77. The condition was suspected with the onset of opthalmic manifestations such as Ectopia lentis glaucoma and ptosis. Marfanoid body habitus (tall stature, high arch palate and arachnodactyly) and scoliosis were present in all four children. Three children had low bone mineral density and 2 of them had fractures. None of them had thromboembolic events. Serum Homocysteine and Methionine levels were high, ranged 145-373μmol/L (4.6-8.1) and 79-177 μmol/L (6-60) respectively. All had normal vitamin B12 levels between 150.0 and 216.0 pmol/L (140-650). It is well known that early detection and initiation of treatment would prevent most of the complications in Homocystinuria. However, in this case series, all children were diagnosed later. Therefore, it is important to suspect the condition in children with intellectual impairment, visual defects and marfanoid body habitus.

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study

Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data are scarce on the natural history of multiple endocrine neoplasia type 2B. We aimed to advance understanding of the phenotype and natural history of multiple endocrine neoplasia type 2B, to increase awareness and improve detection. This study was a retrospective, multicentre, international study in patients carrying the Met918Thr RET variant with no age restrictions. The study was done with registry data from 48 centres globally. Data from patients followed-up from 1970 to 2016 were retrieved from May 1, 2016, to May 31, 2018. Our primary objectives were to determine overall survival, and medullary thyroid carcinoma-specific survival based on whether the patient had undergone early thyroidectomy before the age of 1 year. We also assessed remission of medullary thyroid carcinoma, incidence and treatment of phaeochromocytoma, and the penetrance of extra-endocrine features. 345 patients were included, of whom 338 (98%) had a thyroidectomy. 71 patients (21%) of the total cohort died at a median age of 25 years (range <1-59). Thyroidectomy was done before the age of 1 year in 20 patients, which led to long-term remission (ie, undetectable calcitonin level) in 15 (83%) of 18 individuals (2 patients died of causes unrelated to medullary thyroid carcinoma). Medullary thyroid carcinoma-specific survival curves did not show any significant difference between patients who had thyroidectomy before or after 1 year (comparison of survival curves by log-rank test: p=0·2; hazard ratio 0·35; 95% CI 0.07-1.74). However, there was a significant difference in remission status between patients who underwent thyroidectomy before and after the age of 1 year (p<0·0001). There was a significant difference in remission status between patients who underwent thyroidectomy before and after the age of 1 year (p<0·0001). In the other 318 patients who underwent thyroidectomy after 1 year of age, biochemical and structural remission was obtained in 47 (15%) of 318 individuals. Bilateral phaeochromocytoma was diagnosed in 156 (50%) of 313 patients by 28 years of age. Adrenal-sparing surgery was done in 31 patients: three (10%) of 31 patients had long-term recurrence, while normal adrenal function was obtained in 16 (62%) patients. All patients with available data (n=287) had at least one extra-endocrine feature, including 106 (56%) of 190 patients showing marfanoid body habitus, mucosal neuromas, and gastrointestinal signs. Thyroidectomy done at no later than 1 year of age is associated with a high probability of cure. The reality is that the majority of children with the syndrome will be diagnosed after this recommended age. Adrenal-sparing surgery is feasible in multiple endocrine neoplasia type 2B and affords a good chance for normal adrenal function. To improve the prognosis of such patients, it is imperative that every health-care provider be aware of the extra-endocrine signs and the natural history of this rare syndrome. The implications of this research include increasing awareness of the extra-endocrine symptoms and also recommendations for thyroidectomy before the age of 1 year. None.

Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease

Camurati-Engelmann disease (CED) is an ultrarare autosomal dominant bone dysplasia. Cortical thickening of the diaphyses of the long bones with narrowing of the medullary cavity are associated with bone pain, waddling gait, muscular weakness, easy fatigability, and a marfanoid body habitus. There is no specific treatment for CED. Nonsteroidal anti-inflammatory drugs or glucocorticoids are ineffective in improving bone lesions. A family with a mild to severe form of CED is described. Two patients received long-term bisphosphonate treatment: the 19-year-old female proband was treated with zoledronic acid for 2.2 years; the 4-year-old male proband was treated with neridronic acid for 16 months and with zoledronic acid for an additional 18 months. In both probands, zoledronic acid treatment significantly improved the clinical symptoms, bone lesions, ambulation, and body habitus. Before treatment, both probands showed a marked increase in serum levels of osteocalcin, procollagen type I N-terminal propeptide, and cross-linked carboxyterminal telopeptide of type I collagen, reflecting an increased bone turnover. Bone marker levels returned to their normal values during treatment. Zoledronic acid treatment may be an important therapeutic option in patients with severe CED. Biochemical markers of bone turnover could be considered as surrogate indexes of CED activity.

Shprintzen-Goldberg syndrome presenting as generalised epilepsy in a child: A rare presentation

The ShprintzenGoldberg syndrome (SGS) is a rare connective tissue disorder characterised by craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, neurological, cardiovascular and intellectual disability. We hereby present a case of a thirteen-year-old Indian child who presented to our clinic with generalised epilepsy since 4 years of age. Child also had intellectual disability, delayed developmental milestones, characteristics facial features, umbilical hernia. As there is paucity of literature showing generalised epilepsy as a part of this syndrome, this case promote to create a high degree of clinical suspicion to diagnose a case of Shprintzen-Goldgerg syndrome in patient of generalised epilepsy present with distinctive craniofacial features along with features of craniosynostosis and marfanoid habitus.

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

Mucosal neuromas, thickened corneal nerves and marfanoid body habitus are characteristic phenotypic features of multiple endocrine neoplasia type 2B (MEN2B) and often provide an early clue to the diagnosis of the syndrome. Rarely, patients present with typical physical features of MEN2B but without associated endocrinopathies (medullary thyroid carcinoma or pheochromocytoma) or a RET gene mutation; this clinical presentation is thought to represent a distinct condition termed 'pure mucosal neuroma syndrome'. Exome sequencing was performed in two unrelated probands with mucosal neuromas, thickened corneal nerves and marfanoid body habitus, but no MEN2B-associated endocrinopathy or RET gene mutation. Sanger sequencing was performed to confirm mutations detected by exome sequencing and to test in family members and 3 additional unrelated index patients with mucosal neuromas or thickened corneal nerves. A heterozygous SOS1 gene frameshift mutation (c.3266dup or c.3248dup) was identified in each proband. Sanger sequencing showed that proband 1 inherited the c.3266dup mutation from his affected mother, while the c.3248dup mutation had arisen de novo in proband 2. Sanger sequencing also identified one further novel SOS1 mutation (c.3254dup) in one of the 3 additional index patients. Our results demonstrate the existence of pure mucosal neuroma syndrome as a clinical entity distinct from MEN2B that can now be diagnosed by genetic testing.

Lujan–Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia

BACKGROUNDLujan–Fryns syndrome (LFS) is an extremely rare, X-linked disorder, for which the full clinical spectrum is still unknown. Usually, it presents with neuropsychiatric problems such as learning disabilities and behavioral issues in a typical combination with marfanoid features. Often, there is a positive family history for the disorder. However, sporadic cases have also been reported in males. More interestingly, there is no case of LFS presenting with acute-onset dysphagia in the English language medical literature.CASE PRESENTATIONA 17-year-old Pakistani mentally normal school boy was admitted for the workup of acute-onset dysphagia, hypernasal speech, and nasal regurgitation of liquids. He had no neuropsychiatric issues, and his family history was unremarkable. An obvious nasal twang, facial dysmorphism, and marfanoid body habitus were found on examination. The genetic tests revealed a pathogenic missense mutation in the MED12 gene on his X-chromosome.CONCLUSIONLFS can present as acute-onset dysphagia and in the absence of any neuropsychiatric issues or positive family history of the syndrome.

De novo exon 1 missense mutations of SKI and Shprintzen‐Goldberg syndrome: Two new cases and a clinical review

Shprintzen-Goldberg syndrome (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, aortic dilatation, and intellectual disability. Mutations in exon 1 of SKI have recently been identified as being responsible for approximately 90% of reported individuals diagnosed clinically with Shprintzen-Goldberg syndrome. SKI is a known regulator of TGFβ signaling. Therefore, like Marfan syndrome and Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome is likely caused by deregulated TGFβ signals, explaining the considerable phenotypic overlap between these three disorders. We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome.

The Brittle Cornea Syndrome: Study of a family with five affected siblings

AbstractPurpose To define the natural history,genotype‐phenotype correlation and differential diagnosis of the Brittle Cornea Syndrome (BCS),or Ehlers Danlos Syndrome (EDS) type VIB,caused by mutations in ZNF469 and PRDM5Methods We evaluated one family in which 5 out of 8 siblings suffered from BCS. We performed complete eye and systemic evaluations of the siblings and their parents. We sequenced the candidate gene,ZNF469Results On ocular evaluation we found keratoglobus and thinned corneas that tended to perforate spontaneously,as well as refractive errors caused by high myopia and irregular astigmatism. Progressive thinning of the corneas with keratoglobus led to visual deterioration due to spontaneous perforations and scarring. K readings were above 60 D and corneal thickness below 300um in 4 eyes that had not developed perforation. Systemic manifestations included joint hypermobility,increased elasticity of the skin but no cigarette paper scars, kyphoscoliosis,and progressive conductive hearing loss. Cardiovascular disease was not observed.The systemic findings overlap the kyphoscoliotic type of EDS VIA,the ocular manifestations of which consist of flattened corneal curvatures,fluid vitreous,radial perivascular lattice. Patients with BCS are often diagnosed as having the Marfan syndrome,even though spontaneous perforation of the cornea is not a feature of the latter condition. A 14bp insertion was found in exon 2 of ZNF469Conclusion EDS VIB is a connective tissue disease referred to as BCS; it is characterized by keratoglobus,thinned corneas and Marfanoid body habitus. Two causative genes for BCS have been identified to date,ZNF469 and PRDM5. A 14bp insertion was found in exon 2 of ZNF469. It is possible to provide genetic counseling in the extended family

Ocular features of multiple endocrine neoplasia type 2b

To analyze the ocular features of multiple endocrine neoplasia type 2b (MEN 2b). Three cases with MEN 2b were reviewed and their ocular features analyzed. All patients had medullary thyroid carcinoma and thickened corneal nerve fibers. Adrenal pheochromocytoma, oral mucosal neuroma, marfanoid body habitus, eyelid nodule and conjunctival nodule were found in two patients. And iris nodule was found in one patient. The most common ocular manifestations of MEN 2b is thickened corneal nerve fibers.

Ehlers-Danlos syndrome type VIII: Periodontitis, easy bruising, marfanoid habitus, and distinctive facies

An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with striking arachnodactyly, and a triangular face with delicate features. Analysis of type I and type III collagens revealed no abnormalities. These findings were consistent with a diagnosis of Ehlers-Danlos syndrome type VIII (EDS-VIII), an autosomal dominant connective tissue disorder that was recently mapped to chromosome 12q13. We draw attention to the clinical features that typify EDS-VIII, including extensive pretibial bruising, a marfanoid body habitus, and characteristic facies, as well as childhood onset of progressive periodontal disease.

Rectal bleeding in a woman with a thyroid mass

CLINICAL PRESENTATION: (Dr. D. Wiley) A 32-yearold Caucasian woman presented with an enlarging right neck mass. The mass had been present for 2 years and was associated with dysphagia. She has had no hoarseness or symptoms of respiratory compression. She had been clinically euthyroid. She had no history of radiation exposure or therapy. Medical history was significant for a newly diagnosed irondeficient anemia. The patient was adopted after the death of her mother in her mid-thirties. The patient’s adoptive mother stated that her natural mother had a colostomy. There was no known family history of thyroid disease. Review of systems was remarkable for oligomenorrhea, dyspareunia, and hematochezia. On physical examination, the patient had a marfanoid body habitus with a height of 6 0 and a weight of 122#. There were multiple nodules consistent with fibromas located primarily on her face. Her thyroid was nodular with a dominant 6-cm mass in the right lobe. No cervical lymphadenopathy was palpable. Her heart was regular, lungs were clear to auscultation, breasts were without masses, and her abdominal examination benign. Rectal examination was significant for guaiac-positive stool, and no masses were palpable. Laboratory findings at this time included a normal thyroidstimulating hormone level of 0.6 uIU/ml and a hemoglobin level of 13.0 g/dl. A fine-needle aspiration of the right thyroid mass was suspicious for papillary thyroid carcinoma. Colonoscopy identified pancolonic polyposis, consistent with familial adenomatous polyposis. Multiple biopsies throughout the colon and rectum identified tubulovillous and adenomatous polyps on histopathology. An upper endoscopic evaluation identified multiple adenomatous duodenal polyps measuring 1 to 2 mm in size. A computed tomography (CT) of the abdomen and pelvis at this time was unremarkable. Bilateral mammography was negative for malignancy. The patient underwent a total thyroidectomy without complication. Final pathology confirmed a bilateral multifocal papillary carcinoma with the largest lesion measuring 6 cm. There were 4 separate foci, 2 in each lobe. Two of these were classic papillary and the other 2, including the 6-cm lesion, had atypical patterns. These lesions were more solid with less differentiation and the presence of “squamous morules” (Fig. 1). There was no evidence of lymph node metastases.

Pectus Excavatum Repair

Pectus excavatum (also known as funnel chest or chondrosternal depression), the most common congenital chest wall deformity, involves depression or inward caving of the anterior chest wall. The abnormality is caused by overgrowth of the costal cartilages. The author's experience has been limited to teenagers and adults. In these populations, surgical repair is recommended for severe deformation or for a defect associated with cardiopulmonary symptoms. However, most studies have failed to document consistent improvement in cardiopulmonary function resulting from surgical repair. Cosmesis is certainly a valid indication for surgery, especially when the appearance of the deformation affects the patient's wellbeing. Although computed tomography with three-dimensional reconstruction provides a satisfactory way to compare the anatomy before and after surgical correction, physical examination is essentially all that is needed to confirm a diagnosis of pectus excavatum and establish indications for surgical correction. Associated conditions include Marfan's syndrome and scoliosis. All patients with Marian's syndrome or marfanoid body habitus should be evaluated, but fewer than 5% of patients with scolosis are sufficiently affected to warrant evaluation. A thoracic epidural catheter is encouraged for pain control. Ambulation is initiated on the first postoperative day. Usually drains are removed after 48 hours and the patient is dismissed within 4—5 days after the operation. After a month of recovery, contact sports are allowed provided that the patient wears a custom-made protective shell for a year. The pin is usually kept in place for at least 6—9 months and is removed under local anesthesia after that period. Major complications are extremely rare. Minor complications include superficial wound infection, seroma, and displacement of the metallic pin, requiring replacement or early removal. Most patients (85%) experience improvement and express gratitude that the deformation has been corrected.

Genetic Counseling of Families with Marfan Syndrome and Other Disorders Showing a Marfanoid Body Habitus

Eight pedigrees of patients with Marfan syndrome are presented. In addition, four pedigrees of patients with conditions sometimes showing a marfanoid body habitus are described: Wagner-Stickler syndrome, multiple endocrine neoplasia type III, Ehlers-Danlos syndrome type VIA, and congenital contractural arachnodactyly type II. Emphasis is placed on the importance of genetic information in the differential diagnosis and management of patients and family members by the ophthalmologist.