Marfan Syndrome

Figure 1.79. Palmar adduction ("cortical" thumb) in a normal infant. The thumbs are freely mobile but are held adducted and flexed across the palms with the fingers tightly clutched over them. "Cortical" thumbs are a manifestation of hypertonicity when they are present beyond the first 3 to 4 months. Constant palmar adduction or "clasped" thumb after this age would alert one to the possibility of central nervous system pathology. "Clasped" thumbs are held in a flexed and adducted position across the palm and cannot be abducted or extended.

Figure 1.80. In infants with neonatal Marfan syndrome, the thumb may extend beyond the fifth finger when the infant fists its hand. This infant with Marfan syndrome had an upper/lower segment ratio of 1.52. The normal upper/lower segment ratio in the neonate is 1.69 to 1.7. It is much reduced in Marfan syndrome and increased in short-limbed dwarfism and hypothyroidism. Note that the fingers are long, tubular, and relatively slender.

Neonatal Marfan Syndrome

Figure 1.81. The typical appearance of the fingers in trisomy 18. Note the index finger overlapping the third finger and die fifth finger overlapping the fourth finger. Also note the hypoplastic nails.



Figure 1.82. Bilateral trigger fingers in a neonate. Trigger digits may involve the thumbs or the fingers. The fingers may present with clicking, flexion contractures of the proximal interphalangeal joint, or both. They are much less commonly involved than the thumbs which present with a palpable nodule at the proximal flexor tendon pulley at the level of the metacarpophalangeal joint. Trigger thumbs must be distinguished from a congenital clasped thumb in which the deformity usually affects the metacarpophalangeal joint.

Trigger Thumb Finger Nodule
Figure 1.83. Macrodactyly of the right middle finger occurring from a localized overgrowth of a digit. This occurs most frequently as a random isolated enlargement of a finger or toe, or it may be associated with vascular or lymphatic malformations or may occur in neurofi-bromatosis.


Figure 1.84. Ventral view of the macrodactyly of the right middle finger in the same infant. This was an isolated finding in this infant.

Marfan Finger


Infant With Marfan Syndrome Pictures

Figure 1.86. Macrosyndactyly of the third and fourth fingers of the left hand. This infant had a massive diffuse lymphangioma involving the left side of the neck, the chest, and the upper extremity.

Figure 1.85. Radiograph of die hand of die infant shown in Figure 1.84 showing the macrodactyly of the right middle finger.

Figure 1.86. Macrosyndactyly of the third and fourth fingers of the left hand. This infant had a massive diffuse lymphangioma involving the left side of the neck, the chest, and the upper extremity.

1.87 Figure 1.87. In these infants with "lob ster-claw" deformity (ectrodactyly, or split hand/split foot deformation), die typical V-shaped cleft is noted on the left. In this classic form, all four limbs are involved. The feet are usually more severely affected than die hands. This type is strongly familial and is usually inherited as an autosomal dominant. The atypical type of lobster-claw deformity is seen on the right. Note that the cleft is wider (U-shaped defect) with only a thumb and small finger remaining. This atypical type has no genetic basis and usually involves a single upper extremity but always spares die feet.

Cleft Foot Deformity Claw

Figure 1.88. Typical V-shaped lobster-claw deformity of the hands. The lobster-claw deformity may be associated with odier malformations, often as a genetically determined syndrome. In die hand, the typical deformity consists of the absence of the diird digital ray, with a deep triangular cleft extending to the level of die carpal bones. Fingers bordering the cleft may show clinodactyly, camptodactyly, or syndactyly and are sometimes hypoplastic or completely missing.

Figure 1.89. The typical V-shaped lobster-claw deformity of the feet in the same infant.

Figure 1.90. The atypical type of lobster-claw deformity (U-shaped defect) which only involved the right hand of this infant. Note the wider cleft. This is a sporadic defect.

Figure 1.90. The atypical type of lobster-claw deformity (U-shaped defect) which only involved the right hand of this infant. Note the wider cleft. This is a sporadic defect.

Atypical Marfan Syndrome



Marfan Syndrome Infant
Figure 1.91. A primary reduction malformation of the fingers of the right hand.


Congenital Hypertrophy

Figure 1.92. Congenital hypertrophy of the left upper extremity of an infant at the age of five months. This is also known as segmental hypertrophy or local acromegaly. This is often not obvious at birth but becomes more apparent with increasing age. Limb asymmetry can be caused by vascular anomalies that produce localized overcirculation, but more commonly is found as an isolated phenomenon. When such asymmetry affects one entire side of the body, the term hemihypertrophy is used. Differential diagnosis of hemihypertrophy includes neurofibromatosis, Wilms' tumor, Beckwith-Wiedemann syndrome, Klippel-Trenaunay syndrome, and Russell-Silver dwarf, but most commonly this is an idiopathic finding.

What Ectrodactyly Syndrome
Figure 1.94. A frontal view of a neonate with congenital dislocation of the hip. Note the asymmetry of the skin folds. In congenital dislocation of the hip, asymmetry is not commonly noted in the neonatal period. Congenital dislocation is very much more common in female infants.
Congenital Hip Dislocation
Figure 1.95. A dorsal view of die same infant shows the asymmetric gluteal folds and odier skin folds. In the neonatal period the asymmetry of the gluteal folds and odier skin folds is usually not as apparent as it is in diis infant.
Asymmetric Gluteal Folds



Figure 1.96. Congenital hip dislocation and bilateral club feet in an infant with Poland's anomaly. Note die asymmetry of the creases. Congenital hip dislocation is commonly associated with die presence of other congenital postural deformities. Also note the bilateral talipes equino-varus.

Neonatal Deformities Images

Figure 1.97. Radiograph of congenital dislocation of the hip.



Proximal Focal Femoral Defect

Figure 1.98. Proximal focal femoral deficiency of the right side in an otherwise normal infant. This is a congenital defect of unknown cause, usually consisting of a shortening and contracture of the proximal portion of the femur with or without involvement of the pelvic hones. The severity of the condition depends on the presence or absence of the femoral head and acetabulum. Treatment is directed towards stabilizing the hip. Correction of the leg length discrepancy may require an amputation above the knee and fitting with a prosthesis.

Figure 1.99. Radiograph of the same infant showing the proximal focal femoral deficiency.

Figure 1.100. Hypotrophic left lower extremity. This may occur in the caudal regression syndrome or may be due to interference with the vascular supply to the lower extremity.

Caudal Regression Syndrome

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  • belba
    What is ectrodactyly syndrome?
    8 years ago
  • savannah
    What is vaginal boromatosis?
    6 years ago
  • shishay
    Is cortical thumb normal in infant?
    6 years ago
  • Tomi
    3 years ago

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