Marfanoid Habitus, Dysmorphic Features, and Web Neck

Y. C. Gary Lee, MB, ChB, FRACP, Callum J. Wilson, MB, ChB, FRACP, Ingrid M. Winship, MD, FRACP, Andrew G. Veale, MB, ChB, FRACP, Department of Respiratory Medicine, Greenlane Hospital; the Department of Pediatrics, Starship Children's Hospital; and Northern Regional Genetic Services, Auckland Public Hospital, Auckland, New Zealand

South Med J. 2000;93(12) 

In This Article

Case Report

Our patient was a 25-year-old white man born to unrelated parents from an uneventful pregnancy. He was delivered at term to a 31-year-old mother and 58-year-old father. Neither parent had any marfanoid feature. He had three half-siblings who were healthy and had normal children. A first-degree cousin had clubfoot, otherwise there was no family history of note.

He was born with bilateral talipes equinovarus, which was treated with plaster casts, and required surgical repair of bilateral inguinal hernias as an infant. His milestones were delayed, and he walked at the age of 21/2 years. At 3 years of age, he was noted to have a web neck and a pectus chest deformity. He had speech delay, not speaking until 3 years of age, and difficulty with phonation requiring surgical correction of a laryngeal anomaly at the age of 6 years. He developed satisfactory language skills but spoke with a marked nasal tone. At school, he attended classes for children with special needs, and he subsequently worked in a sheltered workshop.

On examination, he had a marfanoid habitus, measuring 182 cm in height (75th percentile) and 43 kg in weight (below the third percentile). The lower body segment measured 102 cm, giving him an upper-lower segment ratio of 0.74. There was striking neck webbing and asymmetric dysmorphic facial features. His nose was prominent and deviated to the right. He had a long, narrow face with prominent eyebrows and supraorbital ridges. His ears were long and low-set but without the characteristic "crumpled" appearance of CCA. He had a high-arched palate and spoke with a hypernasal tone. Ophthalmologic examination revealed no evidence of subluxation or dislocation of lens. He had a marked chest asymmetry with pectus excavatum and scoliosis of 30°. He had arachnodactyly with contracture of the left fourth and fifth fingers. The wrist and thumb signs were positive. There were bilateral flexion contractures of both elbows to approximately 15° but no limitation of movement in any of the other major joints. He had bilateral pes cavus (Figs 1 and 2). There was evidence of moderate cognitive delay.

Figure 1.

Photograph shows patient's marfanoid habitus, web neck, bilateral elbow, and knee contractures.

Figure 2.

Facial profile shows dysmorphic features. Significant chest wall deformity and sternotomy scar from Bentall procedure are also seen.

At the age of 19 years, the patient had a right-sided spontaneous pneumothorax requiring intercostal tube drainage. Six years later, he was admitted with a small left spontaneous pneumothorax. Overnight, he bled significantly into the left pleural space, necessitating transfusion. A total of 3 L of blood was drained through an intercostal tube. Computed tomography with contrast medium showed no evidence of aortic dissection (Fig 3). Echocardiogram showed aortic regurgitation and dilatation at the sinus area of the ascending aorta measuring at least 8 cm. Bentall procedure was done. No dissection was identified. Histology showed cystic medionecrosis of the aorta, with extensive loss of musculoelastic lamellae. Subpleural blebs were noticed at the right lung apex. The aortic valve was bicuspid with myxomatous degeneration. Chromosome studies were unremarkable (46,XY). Urine nitroprusside test and serum homocysteine were normal. The patient had an uneventful recovery and no further pneumothoraces at 1 year follow-up.

Figure 3.

Computed tomography of thorax shows significant dilatation of ascending aorta (A) without evidence of dissection, normal-appearing descending aorta (D), chest wall deformity, and left pleural effusion (E). (P = left pulmonary artery; S = superior vena cava.)

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